Limb girdle muscular dystrophy type 2L presenting as necrotizing myopathy

Acta Myologica

Volumn 33, Issue 1, 2014, Pages 19-21

  Schneider, Ilka ^a   Stoltenburg, Gisela ^a,b   Deschauer, Marcus ^a   Winterholler, Martin ^c   Hanisch, Frank ^a  

^a MARTIN LUTHER UNIVERSITY HALLE WITTENBERG   (Germany)

^b CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^c Krankenhaus Rummelsberg   (Germany)

Author keywords

Anoctamin 5; Limb girdle muscular dystrophy 2L; Necrotizing myopathy

Indexed keywords

CREATINE KINASE; METHOTREXATE; PREDNISOLONE; SIGNAL RECOGNITION PARTICLE;

ADULT; ANO5 GENE; ARTICLE; CASE REPORT; EXERCISE; FEMALE; GASTROCNEMIUS MUSCLE; GENE; GENE MUTATION; HUMAN; HUMAN TISSUE; IMMUNOSUPPRESSIVE TREATMENT; LIMB GIRDLE MUSCULAR DYSTROPHY; LIMB GIRDLE MUSCULAR DYSTROPHY TYPE 2L; LIMB WEAKNESS; MAJOR HISTOCOMPATIBILITY COMPLEX; MUSCLE BIOPSY; MUSCLE NECROSIS; MUSCLE WEAKNESS; MUSCULAR DYSTROPHY; MYALGIA; MYOPATHY; NECROTIZING MYOPATHY; NUCLEAR MAGNETIC RESONANCE IMAGING; UPREGULATION;

ANOCTAMIN 5; LIMB GIRDLE MUSCULAR DYSTROPHY 2L; NECROTIZING MYOPATHY;

ADULT; BIOPSY; DIAGNOSIS, DIFFERENTIAL; DISEASE PROGRESSION; FEMALE; HUMANS; MAGNETIC RESONANCE IMAGING; MUSCULAR DYSTROPHIES, LIMB-GIRDLE; NECROSIS; PHENOTYPE;

EID: 84900536974     PISSN: 11282460     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (10)

1. Witting N, Duno M, Petri H, et al. Anoctamin 5 muscular dystrophy in Denmark: prevalence, genotypes, phenotypes, cardiac findings, and muscle protein expression. J Neurol 2013;260:2084-93.
2. Sarkozy A, Hicks D, Hudson J, et al. ANO5 Gene Analysis in a Large Cohort of Patients with Anoctaminopathy: Confirmation of Male Prevalence and High Occurrence of the Common Exon 5 Gene Mutation. Hum Mutat 2013;34:1111-8.
3. Hicks D, Sarkozy A, Muelas N, et al. A founder mutation in Anoctamin 5 is a major cause of limb-girdle muscular dystrophy. Brain 2011;134:171-82.
4. Deschauer M, Joshi Pr, Glaser D, et al. [Muscular dystrophy due to mutations in anoctamin 5: clinical and molecular genetic findings]. Nervenarzt 2011;82:1596-603.
5. Bouquet F, Cossee M, Behin A, et al. Miyoshi-like distal myopathy with mutations in anoctamin 5 gene. Rev Neurol (Paris) 2012;168:135-41.
6. Bolduc V, Marlow G, Boycott Km, 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;86:213-21.
7. Mahjneh I, Jaiswal J, Lamminen A, et al. A new distal myopathy with mutation in anoctamin 5. Neuromuscul Disord 2010;20:791-5.
8. Claeys KG, Gorodinskaya O, Handt S, et al. Diagnostic challenge and therapeutic dilemma in necrotizing myopathy. Neurology 2013;81:932-5.
9. Magri F, Bo Rd, D'angelo Mg, et al. Frequency and characterisation of anoctamin 5 mutations in a cohort of Italian limb-girdle muscular dystrophy patients. Neuromuscul Disord 2012;22:934-43.
10. Penisson-Besnier I, Saint-Andre Jp, Hicks D, et al. Myopathy caused by anoctamin 5 mutations and necrotizing vasculitis. J Neurol 2012;259:1988-90.