Limb girdle muscular dystrophy type 2L presenting as necrotizing myopathy.
Recessive mutations in the ANO5 gene, encoding anoctamin 5, cause proximal limb girdle muscular dystrophy (LGMD2L), Miyoshi-type distal myopathy (MM3) and asymptomatic hyper- CKemia. We report a woman with exertion-induced myalgia and weakness in the hip girdle manifesting at the age of 40. Creatine kinase (CK) was increased 20-fold. Histologically the dominating feature was necrotizing myopathy, but long-term immunosuppressive therapy did not change CK level or myopathic symptoms. Molecular genetic investigation led to the finding of the homozygous ANO5 c.191dupA mutation. This is a report of a muscular dystrophy due to ANO5 mutation presenting histologically as necrotizing myopathy. For this reason our finding extends the histological spectrum of myopathies due to ANO5 mutations as well as the possible differential diagnoses for necrotizing myopathy.
Department of Neurology, Martin-Luther-University Halle-Wittenberg, Halle (Saale), Germany;
Ilka
I
Schneider
Department of Neurology, Martin-Luther-University Halle-Wittenberg, Halle (Saale), Germany; ; Institute of Cell and Neurobiology, Institute of Cell and Neurobiology, Charité Universitätsmedizin Berlin, Berlin, Germany;
Gisela
G
Stoltenburg
Department of Neurology, Martin-Luther-University Halle-Wittenberg, Halle (Saale), Germany;
Marcus
M
Deschauer
Krankenhaus Rummelsberg, Schwarzenbruck, Germany.
Martin
M
Winterholler
Department of Neurology, Martin-Luther-University Halle-Wittenberg, Halle (Saale), Germany;
Frank
F
Hanisch
D000328:Adult; D001706:Biopsy; D003937:Diagnosis, Differential; D018450:Disease Progression; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D049288:Muscular Dystrophies, Limb-Girdle / Q000175:diagnosis*; D009336:Necrosis; D010641:Phenotype
Anoctamin 5; limb girdle muscular dystrophy 2L; necrotizing myopathy