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: 2020-02-03 

References
Chong JX, Ouwenga R, Anderson RL, Waggoner DJ, Ober C. (2012) A population-based study of autosomal-recessive disease-causing mutations in a founder population. Am J Hum Genet Oct 5;91(4):608-20.
PubMed ID: 22981120 
Frosk P, Del Bigio MR, Wrogemann K, Greenberg CR. (2005) Hutterite brothers both affected with two forms of limb girdle muscular dystrophy: LGMD2H and LGMD2I. Eur J Hum Genet Aug;13(8):978-82.
PubMed ID: 15886712 
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 
Jerusalem F, Engel AG, Gomez MR. (1973) Sarcotubular myopathy. A newly recognized, benign, congenital, familial muscle disease. Neurology Sep;23(9):897-906.
PubMed ID: 4269389 
Schoser BG, Frosk P, Engel AG, Klutzny U, Lochm├╝ller H, Wrogemann K. (2005) Commonality of TRIM32 mutation in causing sarcotubular myopathy and LGMD2H. Ann Neurol Apr;57(4):591-5.
PubMed ID: 15786463 
Shokeir MH and Kobrinsky NL. (1976) Autosomal recessive muscular dystrophy in Manitoba Hutterites. Clin Genet 9(2):197-202.
PubMed ID: 1248180 
Shokeir MH, Kobrinsky NL. (1976) Autosomal recessive muscular dystrophy in Manitoba Hutterites. Clin Genet Feb;9(2):197-202.
PubMed ID: 1248180 
Weiler T, Greenberg CR, Zelinski T, Nylen E, Coghlan G, Crumley MJ, Fujiwara TM, Morgan K, Wrogemann K. (1998) A gene for autosomal recessive limb-girdle muscular dystrophy in Manitoba Hutterites maps to chromosome region 9q31-q33: evidence for another limb-girdle muscular dystrophy locus. Am J Hum Genet Jul;63(1):140-7.
PubMed ID: 9634523 

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