LIMS2-related limb-girdle muscular dystrophy
Name: |
LIMS2-related limb-girdle muscular dystrophy
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Description: |
A subtype of autosomal recessive limb girdle muscular dystrophy characterized by childhood onset of severe, progressive, proximal skeletal muscle weakness and atrophy of the upper and lower limbs with later involvement of distal muscles and development of severe quadraparesis, calf hypertrophy, triangular tongue, and dilated cardiomyopathy. Skeletal muscles undergo diffuse, bilateral, symmetric and severe atrophy with fat infiltration.
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ORPHAcode: |
466801
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Synonyms: |
Autosomal recessive limb-girdle muscular dystrophy type 2W
LGMD type 2W
LGMD2W
LIMS2-related LGM
Limb-girdle muscular dystrophy type 2W
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XREF(s): | |
Analyte(s): | |
Created: |
13 May 2019 - 01:02
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Changed: |
01 May 2022 - 06:55
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