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Autosomal recessive limb-girdle muscular dystrophy type 2M
rareA form of limb-girdle muscular dystrophy characterized by an infantile onset of hypotonia, axial and proximal lower limb weakness (with severe weakness noted after febrile illnesses), cardiomyopathy and normal or reduced intelligence. Hypertrophy of calves, thighs, and triceps have also been reported in some cases.
- Identifiers
- MONDO:0012699 OMIM:611588Orphanet:206554
- Part of
- Autosomal recessive limb-girdle muscular dystrophyFamilial dilated cardiomyopathyMuscular dystrophy-dystroglycanopathy, type CMyopathy caused by variation in FKTN
- Also known as
- autosomal recessive limb-girdle muscular dystrophy caused by mutation in FKTN · FKTN autosomal recessive limb-girdle muscular dystrophy · LGMD-FKTN related · LGMD2M · limb-girdle muscular dystrophy type 2M
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