autosomal recessive limb-girdle muscular dystrophy type 2M
A 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.
MONDO:0000173
muscular dystrophy-dystroglycanopathy, type C
is_a
MONDO:0015152
autosomal recessive limb-girdle muscular dystrophy
is_a
MONDO:0016333
familial dilated cardiomyopathy
is_a
MONDO:0700067
myopathy caused by variation in FKTN
is_a
FKTN autosomal recessive limb-girdle muscular dystrophy
exact
LGMD-FKTN related
exact
LGMD2M
exact
MDDGC4
exact
autosomal recessive limb-girdle muscular dystrophy caused by mutation in FKTN
exact
limb-girdle muscular dystrophy type 2M
related
muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4
related