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HGNC

GENATLAS PHENOTYPE

last update : 29/10/2008

Symbol	LGMD2M
Location	9q31.2
Name	limb girdle muscular dystrophy 2M
Corresponding gene	FKTN
Main clinical features	hypotonia and muscle weakness in infancy between ages 4 and 10 months, severe acute motor deterioration after febrile viral illnesses, mainly proximal muscle weakness with delayed motor development, decreased endurance, frequent falls, proximal muscle weakness, hypertrophy of lower limb muscles, and increased serum creatine kinase skeletal muscle biopsies showed virtually absent glycosylation of alpha-dystroglycan and dystrophic features with mild macrophage infiltration
Genetic determination	autosomal recessive
Function/system disorder	neuromuscular
Type	disease

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