Titin-related limb-girdle muscular dystrophy R10

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Name:
Titin-related limb-girdle muscular dystrophy R10
Description:
A form of limb-girdle muscular dystrophy that usually has a childhood onset (but can range from the first to third decade of life) of severe progressive proximal weakness, eventually involving the distal muscles. Some patients may remain ambulatory but most are wheelchair dependant 20 years after onset.
ORPHAcode:
140922
Synonyms:
Autosomal recessive limb-girdle muscular dystrophy type 2J
LGMD type 2J
LGMD2J
Limb-girdle muscular dystrophy type 2J
Titin-related LGMD R10
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Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14