Medscape is available in 5 Language Editions – Choose your Edition here.


Limb-Girdle Muscular Dystrophy Follow-up

  • Author: Glenn Lopate, MD; Chief Editor: Nicholas Lorenzo, MD, MHA, CPE  more...
Updated: Jul 15, 2016

Further Outpatient Care

At each visit, monitor the patient's muscle function, contractures, cardiopulmonary complications, and ability to perform activities of daily living.


Further Inpatient Care

Admit for orthopedic care or cardiopulmonary complications.



Complications include the following:

  • Contractures, scoliosis
  • Pulmonary insufficiency
  • Cardiomyopathy, cardiac arrhythmia


The prognosis depends on the specific genetic mutation, as outlined in the Clinical section.

Pulmonary insufficiency, cardiomyopathy, and cardiac arrhythmia are the major causes of death.


Patient Education

Genetic counseling is often helpful to patients and families to assist in family-planning decisions.

For additional information, see Muscular Dystrophy Association.

Contributor Information and Disclosures

Glenn Lopate, MD Associate Professor, Department of Neurology, Division of Neuromuscular Diseases, Washington University School of Medicine; Consulting Staff, Department of Neurology, Barnes-Jewish Hospital

Glenn Lopate, MD is a member of the following medical societies: American Academy of Neurology, American Association of Neuromuscular and Electrodiagnostic Medicine, Phi Beta Kappa

Disclosure: Nothing to disclose.

Specialty Editor Board

Francisco Talavera, PharmD, PhD Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Received salary from Medscape for employment. for: Medscape.

Chief Editor

Nicholas Lorenzo, MD, MHA, CPE Founding Editor-in-Chief, eMedicine Neurology; Founder and CEO/CMO, PHLT Consultants; Chief Medical Officer, MeMD Inc

Nicholas Lorenzo, MD, MHA, CPE is a member of the following medical societies: Alpha Omega Alpha, American Association for Physician Leadership, American Academy of Neurology

Disclosure: Nothing to disclose.

Additional Contributors

Raj D Sheth, MD Chief, Division of Pediatric Neurology, Nemours Children's Clinic; Professor of Neurology, Mayo College of Medicine; Professor of Pediatrics, University of Florida College of Medicine

Raj D Sheth, MD is a member of the following medical societies: American Academy of Neurology, American Academy of Pediatrics, American Epilepsy Society, American Neurological Association, Child Neurology Society

Disclosure: Nothing to disclose.

  1. Walton JN, Nattrass FJ. On the classification, natural history and treatment of the myopathies. Brain. 1954. 77(2):169-231. [Medline].

  2. Thompson R, Straub V. Limb-girdle muscular dystrophies - international collaborations for translational research. Nat Rev Neurol. 2016 May. 12 (5):294-309. [Medline].

  3. Moore SA, Shilling CJ, Westra S, Wall C, Wicklund MP, Stolle C, et al. Limb-girdle muscular dystrophy in the United States. J Neuropathol Exp Neurol. 2006 Oct. 65(10):995-1003. [Medline].

  4. van der Kooi AJ, Frankhuizen WS, Barth PG, Howeler CJ, Padberg GW, Spaans F, et al. Limb-girdle muscular dystrophy in the Netherlands: gene defect identified in half the families. Neurology. 2007 Jun 12. 68(24):2125-8. [Medline].

  5. Lo HP, Cooper ST, Evesson FJ, Seto JT, Chiotis M, Tay V, et al. Limb-girdle muscular dystrophy: diagnostic evaluation, frequency and clues to pathogenesis. Neuromuscul Disord. 2008 Jan. 18(1):34-44. [Medline].

  6. Guglieri M, Magri F, D'Angelo MG, Prelle A, Morandi L, Rodolico C, et al. Clinical, molecular, and protein correlations in a large sample of genetically diagnosed Italian limb girdle muscular dystrophy patients. Hum Mutat. 2008 Feb. 29(2):258-66. [Medline].

  7. Fanin M, Nascimbeni AC, Aurino S, Tasca E, Pegoraro E, Nigro V, et al. Frequency of LGMD gene mutations in Italian patients with distinct clinical phenotypes. Neurology. 2009 Apr 21. 72(16):1432-5. [Medline].

  8. Groen EJ, Charlton R, Barresi R, Anderson LV, Eagle M, Hudson J, et al. Analysis of the UK diagnostic strategy for limb girdle muscular dystrophy 2A. Brain. 2007 Dec. 130:3237-49. [Medline].

  9. Nguyen K, Bassez G, Krahn M, Bernard R, Laforêt P, Labelle V, et al. Phenotypic study in 40 patients with dysferlin gene mutations: high frequency of atypical phenotypes. Arch Neurol. 2007 Aug. 64(8):1176-82. [Medline].

  10. Vilchez JJ, Gallano P, Gallardo E, Lasa A, Rojas-García R, Freixas A. Identification of a novel founder mutation in the DYSF gene causing clinical variability in the Spanish population. Arch Neurol. 2005 Aug. 62(8):1256-9. [Medline].

  11. Seror P, Krahn M, Laforet P, Leturcq F, Maisonobe T. Complete fatty degeneration of lumbar erector spinae muscles caused by a primary dysferlinopathy. Muscle Nerve. 2008 Mar. 37(3):410-4. [Medline].

  12. Klinge L, Aboumousa A, Eagle M, Hudson J, Sarkozy A, Vita G. New aspects on patients affected by dysferlin deficient muscular dystrophy. J Neurol Neurosurg Psychiatry. 2010 Sep. 81(9):946-53. [Medline].

  13. Ferreiro A, Mezmezian M, Olivé M, Herlicoviez D, Fardeau M, Richard P. Telethonin-deficiency initially presenting as a congenital muscular dystrophy. Neuromuscul Disord. 2011 Jun. 21(6):433-8. [Medline].

  14. Olivé M, Shatunov A, Gonzalez L, Carmona O, Moreno D, Quereda LG, et al. Transcription-terminating mutation in telethonin causing autosomal recessive muscular dystrophy type 2G in a European patient. Neuromuscul Disord. 2008 Dec. 18(12):929-33. [Medline].

  15. Saccone V, Palmieri M, Passamano L, Piluso G, Meroni G, Politano L, et al. Mutations that impair interaction properties of TRIM32 associated with limb-girdle muscular dystrophy 2H. Hum Mutat. 2008 Feb. 29(2):240-7. [Medline].

  16. Palmieri A, Manara R, Bello L, Mento G, Lazzarini L, Borsato C. Cognitive profile and MRI findings in limb-girdle muscular dystrophy 2I. J Neurol. 2011 Jul. 258(7):1312-20. [Medline].

  17. Sveen ML, Schwartz M, Vissing J. High prevalence and phenotype-genotype correlations of limb girdle muscular dystrophy type 2I in Denmark. Ann Neurol. 2006 May. 59(5):808-15. [Medline].

  18. Stensland E, Lindal S, Jonsrud C, Torbergsen T, Bindoff LA, Rasmussen M, et al. Prevalence, mutation spectrum and phenotypic variability in Norwegian patients with Limb Girdle Muscular Dystrophy 2I. Neuromuscul Disord. 2011 Jan. 21(1):41-6. [Medline].

  19. Mathews KD, Stephan CM, Laubenthal K, Winder TL, Michele DE, Moore SA, et al. Myoglobinuria and muscle pain are common in patients with limb-girdle muscular dystrophy 2I. Neurology. 2011 Jan 11. 76(2):194-5. [Medline]. [Full Text].

  20. Hanisch F, Grimm D, Zierz S, Deschauer M. Frequency of the FKRP mutation c.826C>A in isolated hyperCKemia and in limb girdle muscular dystrophy type 2 in German patients. J Neurol. 2010 Feb. 257(2):300-1. [Medline].

  21. Wahbi K, Meune C, Hamouda el H, Stojkovic T, Laforêt P, Bécane HM, et al. Cardiac assessment of limb-girdle muscular dystrophy 2I patients: an echography, Holter ECG and magnetic resonance imaging study. Neuromuscul Disord. 2008 Aug. 18(8):650-5. [Medline].

  22. Pénisson-Besnier I, Hackman P, Suominen T, Sarparanta J, Huovinen S, Richard-Crémieux I, et al. Myopathies caused by homozygous titin mutations: limb-girdle muscular dystrophy 2J and variations of phenotype. J Neurol Neurosurg Psychiatry. 2010 Nov. 81(11):1200-2. [Medline].

  23. Jarry J, Rioux MF, Bolduc V, Robitaille Y, Khoury V, Thiffault I, et al. A novel autosomal recessive limb-girdle muscular dystrophy with quadriceps atrophy maps to 11p13-p12. Brain. 2007 Feb. 130:368-80. [Medline].

  24. Bolduc V, Marlow G, Boycott KM, Saleki K, Inoue H, Kroon J, et al. Recessive mutations in the putative calcium-activated chloride channel Anoctamin 5 cause proximal LGMD2L and distal MMD3 muscular dystrophies. Am J Hum Genet. 2010 Feb 12. 86(2):213-21. [Medline]. [Full Text].

  25. Hicks D, Sarkozy A, Muelas N, Koehler K, Huebner A, Hudson G, et al. A founder mutation in Anoctamin 5 is a major cause of limb-girdle muscular dystrophy. Brain. 2011 Jan. 134:171-82. [Medline].

  26. Godfrey C, Escolar D, Brockington M, Clement EM, Mein R, Jimenez-Mallebrera C, et al. Fukutin gene mutations in steroid-responsive limb girdle muscular dystrophy. Ann Neurol. 2006 Nov. 60(5):603-10. [Medline].

  27. Puckett RL, Moore SA, Winder TL, Willer T, Romansky SG, Covault KK, et al. Further evidence of Fukutin mutations as a cause of childhood onset limb-girdle muscular dystrophy without mental retardation. Neuromuscul Disord. 2009 May. 19(5):352-6. [Medline]. [Full Text].

  28. Vuillaumier-Barrot S, Quijano-Roy S, Bouchet-Seraphin C, Maugenre S, Peudenier S, Van den Bergh P. Four Caucasian patients with mutations in the fukutin gene and variable clinical phenotype. Neuromuscul Disord. 2009 Mar. 19(3):182-8. [Medline].

  29. Murakami T, Hayashi YK, Ogawa M, Noguchi S, Campbell KP, Togawa M, et al. A novel POMT2 mutation causes mild congenital muscular dystrophy with normal brain MRI. Brain Dev. 2009 Jun. 31(6):465-8. [Medline]. [Full Text].

  30. Biancheri R, Falace A, Tessa A, Pedemonte M, Scapolan S, Cassandrini D, et al. POMT2 gene mutation in limb-girdle muscular dystrophy with inflammatory changes. Biochem Biophys Res Commun. 2007 Nov 30. 363(4):1033-7. [Medline].

  31. Hara Y, Balci-Hayta B, Yoshida-Moriguchi T, Kanagawa M, Beltrán-Valero de Bernabé D, Gündesli H. A dystroglycan mutation associated with limb-girdle muscular dystrophy. N Engl J Med. 2011 Mar 10. 364(10):939-46. [Medline].

  32. Gundesli H, Talim B, Korkusuz P, Balci-Hayta B, Cirak S, Akarsu NA. Mutation in exon 1f of PLEC, leading to disruption of plectin isoform 1f, causes autosomal-recessive limb-girdle muscular dystrophy. Am J Hum Genet. 2010 Dec 10. 87(6):834-41. [Medline].

  33. Cetin N, Balci-Hayta B, Gundesli H, Korkusuz P, Purali N, Talim B. A novel desmin mutation leading to autosomal recessive limb-girdle muscular dystrophy: distinct histopathological outcomes compared with desminopathies. J Med Genet. 2013 Jul. 50(7):437-43. [Medline].

  34. Bögershausen N, Shahrzad N, Chong JX, von Kleist-Retzow JC, Stanga D, Li Y. Recessive TRAPPC11 mutations cause a disease spectrum of limb girdle muscular dystrophy and myopathy with movement disorder and intellectual disability. Am J Hum Genet. 2013 Jul 11. 93(1):181-90. [Medline].

  35. Carss KJ, Stevens E, Foley AR, et al. Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan. Am J Hum Genet. 2013 Jul 11. 93 (1):29-41. [Medline].

  36. Cabrera-Serrano M, Ghaoui R, Ravenscroft G, Johnsen RD, Davis MR, Corbett A, et al. Expanding the phenotype of GMPPB mutations. Brain. 2015 Apr. 138 (Pt 4):836-44. [Medline].

  37. Cirak S, Foley AR, Herrmann R, et al. ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophies. Brain. 2013 Jan. 136 (Pt 1):269-81. [Medline].

  38. Tasca G, Moro F, Aiello C, Cassandrini D, Fiorillo C, Bertini E, et al. Limb-girdle muscular dystrophy with α-dystroglycan deficiency and mutations in the ISPD gene. Neurology. 2013 Mar 5. 80 (10):963-5. [Medline].

  39. Chardon JW, Smith AC, Woulfe J, Pena E, Rakhra K, Dennie C, et al. LIMS2 mutations are associated with a novel muscular dystrophy, severe cardiomyopathy and triangular tongues. Clin Genet. 2015 Dec. 88 (6):558-64. [Medline].

  40. Schindler RF, Scotton C, Zhang J, et al. POPDC1(S201F) causes muscular dystrophy and arrhythmia by affecting protein trafficking. J Clin Invest. 2016 Jan. 126 (1):239-53. [Medline].

  41. Aboumousa A, Hoogendijk J, Charlton R, Barresi R, Herrmann R, Voit T, et al. Caveolinopathy--new mutations and additional symptoms. Neuromuscul Disord. 2008 Jul. 18(7):572-8. [Medline].

  42. Greenberg SA, Salajegheh M, Judge DP, Feldman MW, Kuncl RW, Waldon Z. Etiology of limb girdle muscular dystrophy 1D/1E determined by laser capture microdissection proteomics. Ann Neurol. 2012 Jan. 71(1):141-5. [Medline].

  43. Sarparanta J, Jonson PH, Golzio C, Sandell S, Luque H, Screen M. Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy. Nat Genet. 2012 Apr. 44(4):450-5, S1-2. [Medline].

  44. Harms MB, Sommerville RB, Allred P, Bell S, Ma D, Cooper P. Exome sequencing reveals DNAJB6 mutations in dominantly-inherited myopathy. Ann Neurol. 2012 Mar. 71(3):407-16. [Medline].

  45. Palenzuela L, Andreu AL, Gamez J, et al. A novel autosomal dominant limb-girdle muscular dystrophy (LGMD 1F) maps to 7q32.1-32.2. Neurology. 2003 Aug 12. 61(3):404-6. [Medline].

  46. Vieira NM, Naslavsky MS, Licinio L, Kok F, Schlesinger D, Vainzof M, et al. A defect in the RNA-processing protein HNRPDL causes limb-girdle muscular dystrophy 1G (LGMD1G). Hum Mol Genet. 2014 Aug 1. 23 (15):4103-10. [Medline].

  47. Fischer D, Kley RA, Strach K, Meyer C, Sommer T, Eger K, et al. Distinct muscle imaging patterns in myofibrillar myopathies. Neurology. 2008 Sep 2. 71(10):758-65. [Medline].

  48. Selcen D, Muntoni F, Burton BK, Pegoraro E, Sewry C, Bite AV, et al. Mutation in BAG3 causes severe dominant childhood muscular dystrophy. Ann Neurol. 2009 Jan. 65(1):83-9. [Medline]. [Full Text].

  49. Odgerel Z, Sarkozy A, Lee HS, McKenna C, Rankin J, Straub V. Inheritance patterns and phenotypic features of myofibrillar myopathy associated with a BAG3 mutation. Neuromuscul Disord. 2010 Jul. 20(7):438-42. [Medline].

  50. Beckmann JS, Spencer M. Calpain 3, the "gatekeeper" of proper sarcomere assembly, turnover and maintenance. Neuromuscul Disord. 2008 Dec. 18(12):913-21. [Medline].

  51. Cacciottolo M, Numitone G, Aurino S, Caserta IR, Fanin M, Politano L, et al. Muscular dystrophy with marked Dysferlin deficiency is consistently caused by primary dysferlin gene mutations. Eur J Hum Genet. 2011 Sep. 19(9):974-80. [Medline]. [Full Text].

  52. Markert CD, Ning J, Staley JT, Heinzke L, Childers CK, Ferreira JA, et al. TCAP knockdown by RNA interference inhibits myoblast differentiation in cultured skeletal muscle cells. Neuromuscul Disord. 2008 May. 18(5):413-22. [Medline].

  53. Lommel M, Cirak S, Willer T, Hermann R, Uyanik G, van Bokhoven H. Correlation of enzyme activity and clinical phenotype in POMT1-associated dystroglycanopathies. Neurology. 2010 Jan 12. 74(2):157-64. [Medline].

  54. Torella A, Fanin M, Mutarelli M, Peterle E, Del Vecchio Blanco F, Rispoli R. Next-generation sequencing identifies transportin 3 as the causative gene for LGMD1F. PLoS One. 2013. 8(5):e63536. [Medline].

  55. Ferrer I, Olivé M. Molecular pathology of myofibrillar myopathies. Expert Rev Mol Med. 2008 Sep 3. 10:e25. [Medline].

  56. Hughes S. Guideline to Aid Muscular Dystrophy Diagnosis, Management. Medscape Medical News. Available at Accessed: October 19, 2014.

  57. Naravanaswami P., et al. . Evidence-based guideline summary: Diagnosis and treatment of limb-girdle and distal dystrophies: Report of the Guideline Development Subcommittee of the American Academy of Neurology and the Practice Issues Review Panel of the American Association of Neuromuscular & Electrodiagnostic Medicine. Neurology. 2014 Oct. 14;83(16):1453-63. [Full Text].

  58. Ghaoui R, Cooper ST, Lek M, Jones K, Corbett A, Reddel SW, et al. Use of Whole-Exome Sequencing for Diagnosis of Limb-Girdle Muscular Dystrophy: Outcomes and Lessons Learned. JAMA Neurol. 2015 Dec. 72 (12):1424-32. [Medline].

  59. Paradas C, Llauger J, Diaz-Manera J, Rojas-García R, De Luna N, Iturriaga C. Redefining dysferlinopathy phenotypes based on clinical findings and muscle imaging studies. Neurology. 2010 Jul 27. 75(4):316-23. [Medline].

  60. Trabelsi M, Kavian N, Daoud F, Commere V, Deburgrave N, Beugnet C, et al. Revised spectrum of mutations in sarcoglycanopathies. Eur J Hum Genet. 2008 Jul. 16(7):793-803. [Medline].

  61. Mendell JR, Rodino-Klapac LR, Rosales XQ, Coley BD, Galloway G, Lewis S, et al. Sustained alpha-sarcoglycan gene expression after gene transfer in limb-girdle muscular dystrophy, type 2D. Ann Neurol. 2010 Nov. 68(5):629-38. [Medline]. [Full Text].

  62. Wagner KR, Fleckenstein JL, Amato AA, et al. A phase I/IItrial of MYO-029 in adult subjects with muscular dystrophy. Ann Neurol. 2008 May. 63 (5):561-71. [Medline].

  63. Narayanaswami P, Weiss M, Selcen D, David W, Raynor E, et al. Evidence-based guideline summary: diagnosis and treatment of limb-girdle and distal dystrophies: report of the guideline development subcommittee of the American Academy of Neurology and the practice issues review panel of the American Association of Neuromuscular & Electrodiagnostic Medicine. Neurology. 2014 Oct 14. 83 (16):1453-63. [Medline].

  64. Balci B, Uyanik G, Dincer P, et al. An autosomal recessive limb girdle muscular dystrophy (LGMD2) with mild mental retardation is allelic to Walker-Warburg syndrome (WWS) caused by a mutation in the POMT1 gene. Neuromuscul Disord. 2005 Apr. 15(4):271-5. [Medline].

  65. Bar H. Mucke N. Ringler P. Muller SA. Kreplak L. Katus HA. Aebi U. Herrmann H. Impact of disease mutations on the desmin filament assembly process. J Molec Biol. Jul 2006. 360:1031-42. [Medline].

  66. Boito CA, Melacini P, Vianello A, et al. Clinical and molecular characterization of patients with limb-girdle muscular dystrophy type 2I. Arch Neurol. 2005. 62:1894-9. [Medline].

  67. Bönnemann CG, Bushby K. The limb-girdle muscular dystrophies. Engel AG, Franzini-Armstrong C. Myology. 3rd ed. New York, NY: McGraw Hill; 2004. 1077-1121.

  68. Clement EM, Godfrey C, Tan J, Brockington M, Torelli S, Feng L. Mild POMGnT1 mutations underlie a novel limb-girdle muscular dystrophy variant. Arch Neurol. 2008 Jan. 65(1):137-41. [Medline].

  69. D'Amico A, Tessa A, Bruno C. Expanding the clinical spectrum of POMT1 phenotype. Neurology. 2006. 66:1564-7. [Medline].

  70. D'Amico A. Benedetti S. Petrini S. Sambuughin N. Boldrini R. Menditto I. Ferrari M. Verardo M. Goldfarb L. Bertini E. Major myofibrillar changes in early onset myopathy due to de novo heterozygous missense mutation in lamin A/C gene. Neuromuscular Disorders. Dec 2005. 15:847-50. [Medline].

  71. Fanin M, Nascimbeni AC, Angelini C. Screening of calpain-3 autolytic activity in LGMD muscle: a functional map of CAPN3 gene mutations. J Med Genet. 2007. 44:38-43. [Medline].

  72. Fischer D, Walter MC, Kesper K. Diagnostic value of muscle MRI in differentiating LGMD2I from other LGMDs. J Neurol. 2005. 252:538-47. [Medline].

  73. Foroud T, Pankratz N, Batchman AP, et al. A mutation in myotilin causes spheroid body myopathy. Neurology. 2005 Dec 27. 65(12):1936-40. [Medline].

  74. Fulizio L, Nascimbeni AC, Fanin M, et al. Molecular and muscle pathology in a series of caveolinopathy patients. Hum Mutat. 2005 Jan. 25(1):82-9. [Medline].

  75. Godfrey C, Clement E, Mein R, Brockington M, Smith J, Talim B. Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan. Brain. 2007 Oct. 130(Pt 10):2725-35. [Medline].

  76. Goudeau B. Rodrigues-Lima F. Fischer D. Casteras-Simon M. Sambuughin N. de Visser M. Laforet P. Ferrer X. Chapon F. Sjoberg G. Kostareva A. Sejersen T. Dalakas MC. Goldfarb LG. Vicart P. Variable pathogenic potentials of mutations located in the desmin alpha-helical domain. Human Mutation. Sep 2006. 27:906-13. [Medline].

  77. Guglieri M, Magri F, Comi GP. Molecular etiopathogenesis of limb girdle muscular and congenital muscular dystrophies: boundaries and contiguities. Clinica Chimica Acta. 2005. 361:54-79. [Medline].

  78. Kramerova I, Beckmann JS, Spencer MJ. Molecular and cellular basis of calpainopathy (limb girdle muscular dystrophy type 2A). Biochim Biophys Acta. 2007 Feb. 1772(2):128-44. [Medline].

  79. Neuromuscular Disease Center. Dilated cardiomyopathy. St Louis, Mo: Washington University. Available at Accessed: January 12, 2006.

  80. Neuromuscular Disease Center. Large or prominent muscles. Familial partial lipodystrophy (Kobberling-Dunnigan syndrome). St Louis, Mo: Washington University. Available at Accessed: September 19, 2005.

  81. Olive M, Goldfarb LG, Shatunov A, et al. Myotilinopathy: refining the clinical and myopathological phenotype. Brain. 2005 Oct. 128(Pt 10):2315-26. [Medline].

  82. Ozawa E, Mizuno Y, Hagiwara Y. Molecular and cell biology of the sarcoglycan complex. Muscle Nerve. 2005. 32:563-76. [Medline].

  83. Penisson-Besnier I. Talvinen K. Dumez C. Vihola A. Dubas F. Fardeau M. Hackman P. Carpen O. Udd B. Myotilinopathy in a family with late onset myopathy. Neuromuscular Disorders. July 2006. 16:427-31. [Medline].

  84. Pestronk A. Neuromuscular Disease Center. St Louis, Mo: Washington University. Available at

  85. Raju R. Dalakas MC. Absence of upregulated genes associated with protein accumulations in desmin myopathy. Muscle Nerve. Mar 2007. 35:386-8. [Medline].

  86. Saenz A, Leturcq F, Cobo AM, et al. LGMD2A: genotype-phenotype correlations based on a large mutational survey on the calpain 3 gene. Brain. 2005 Apr. 128(Pt 4):732-42. [Medline].

  87. Schoser BG, Frosk P, Engel AG. Commonality of TRIM32 mutation in causing sarcotubular myopathy and LGMD2H. Ann Neurol. 2005. 57:591-595. [Medline].

  88. Selcen D, Engel AG. Mutations in myotilin cause myofibrillar myopathy. Neurology. 2004 Apr 27. 62(8):1363-71. [Medline].

  89. Selcen D, Engel AG. Mutations in ZASP define a novel form of muscular dystrophy in humans. Ann Neurol. 2005 Feb. 57(2):269-76. [Medline].

  90. Selcen D, Engel AG. Myofibrillar myopathies. Engel AG, Franzini-Armstrong C, eds. Myology. 3rd ed. New York, NY: McGraw Hill; 2004. 1187-202.

  91. Starling A, Kok F, Passos-Bueno MR, et al. A new form of autosomal dominant limb-girdle muscular dystrophy (LGMD1G) with progressive fingers and toes flexion limitation maps to chromosome 4p21. Eur J Hum Genet. 2004 Dec. 12(12):1033-40. [Medline].

  92. Vorgerd M. van der Ven PF. Bruchertseifer V. Lowe T. Kley RA. Schroder R. Lochmuller H. Himmel M. Koehler K. Furst DO. Huebner A. A mutation in the dimerization domain of filamin c causes a novel type of autosomal dominant myofibrillar myopathy. Am J Hum Genet. Aug 2005. 77:297-304. [Medline].

Dystrophin-glycoprotein complex bridges the inner cytoskeleton (F-actin) and the basal lamina. Mutations in all sarcoglycans, dysferlin, and caveolin-3, as well as mutations that cause abnormal glycosylation of alpha-dystroglycan can result in limb-girdle muscular dystrophy syndrome. Reprinted with permission from Cohn RD. Dystroglycan: important player in skeletal muscle and beyond. In: Neuromuscular Disorders. Vol. 15. Cohn RD. Elsevier; 2005: 207-17. 7, 20
Schematic of the sarcomere with labeled molecular components that are known to cause limb-girdle muscular dystrophy or myofibrillar myopathy. Mutations in actin and nebulin cause the congenital myopathy nemaline rod myopathy, and the mutations in myosin cause familial hypertrophic cardiomyopathy. Image courtesy of Dr F. Schoeni-Affoher, University of Friberg, Switzerland.
Top: Photomicrograph shows normal alpha-sarcoglycan staining of a myopathic biopsy specimen. Note dark staining around the rims of the muscle fibers. Bottom: Alpha-sarcoglycan stain of a muscle biopsy specimen from a patient with alpha-sarcoglycan deficiency. Note the absence of staining at the rims of the muscle fibers. Patterns of staining similar to these are observed in all the sarcoglycanopathies, dysferlinopathy, calpainopathy and limb-girdle muscular dystrophy type 2I (LGMD2I, Fukutin-related proteinopathy). However, staining may be variably reduced or absent.
Gomori trichrome–stained section in patient with myofibrillar myopathy. Note the abnormal accumulations of blue-red material in several muscle fibers.
Immunohistochemical staining by using an anti-desmin antibody in a patient with a myofibrillar myopathy. Courtesy of Alan Pestronk.
All material on this website is protected by copyright, Copyright © 1994-2016 by WebMD LLC. This website also contains material copyrighted by 3rd parties.