Limb-girdle muscular dystrophy 2H and the role of TRIM32
PB Shieh, E Kudryashova, MJ Spencer - Handbook of clinical neurology, 2011 - Elsevier
Limb-girdle muscular dystrophy (LGMD) 2H is a slowly progressive condition characterized
by proximal weakness, atrophy, and mildly to moderately raised levels of creatine kinase.
Facial weakness, scapular winging, hypertrophied calves, and Achilles tendon contractions
are not uncommon and the age of onset ranges between the first and fourth decade.
LGMD2H was originally described in the Hutterite population that resides in central Canada
and the Dakotas of the USA. LGMD2H was mapped to a specific mutation in the TRIM32 …
by proximal weakness, atrophy, and mildly to moderately raised levels of creatine kinase.
Facial weakness, scapular winging, hypertrophied calves, and Achilles tendon contractions
are not uncommon and the age of onset ranges between the first and fourth decade.
LGMD2H was originally described in the Hutterite population that resides in central Canada
and the Dakotas of the USA. LGMD2H was mapped to a specific mutation in the TRIM32 …