Amish, Mennonite, and Hutterite
Genetic Disorder Database

Muscular Dystrophy, Limb-Girdle, Type 2H

Disorder
OMIM #: #254110  (Click to access OMIM database)
Disorder: Muscular Dystrophy, Limb-Girdle, Type 2H 
Also known as: LGMD2H, MUSCULAR DYSTROPHY, HUTTERITE TYPE, SARCOTUBULAR MYOPATHY 
Clinical
Phenotype: Onset in the second or third decade of life, mild form of recessive muscular dystrophy, most patients are ambulatory into the sixth decade of life, weakness, Gowers sign, facial muscle weakness, pelvic girdle muscle weakness, shoulder girdle muscle weakness, muscle weakness 
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
Hutterite
Remarks:  
Mutations
1   Hutterite  
Gene: TRIM32
Base Change: G>A, at nucleotide 1459
Amino Acid Change: asp 487 --> asn
Last updated: 2008-08-26 

References
Frosk P, Weiler T, Nylen E, Sudha T, Greenberg CR, Morgan K, Fujiwara TM, and Wrogemann K. (2002) Limb-girdle muscular dystrophy type 2H associated with mutation in TRIM32, a putative E3-ubiquitin-ligase gene. Am J Hum Genet 70(3): 663-672.
PubMed ID: 11822024 
Shokeir MH and Kobrinsky NL. (1976) Autosomal recessive muscular dystrophy in Manitoba Hutterites. Clin Genet 9(2):197-202.
PubMed ID: 1248180 

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