Muscular dystrophy, limb-girdle, autosomal recessive 8
| Disorder | |
|---|---|
| OMIM #: | #254110 (Click to access OMIM database) |
| Disorder: | Muscular dystrophy, limb-girdle, autosomal recessive 8 |
| Also known as: | LGMDR8 Muscular dystrophy, limb-girdle, type 2H LGMD2H Muscular dystrophy, Hutterite type Sarcotubular myopathy |
| Clinical | |
| Phenotype: | mild form of recessive muscular dystrophy, Gowers sign, facial muscle weakness, pelvic girdle muscle weakness, shoulder girdle muscle weakness, muscle weakness, muscle atrophy, increased serum creatine kinase |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | Autosomal recessive |
| Mutations | |
| 1 Hutterite | |
| Gene: | TRIM32 |
| Base Change: | G>A, at nucleotide 1459 |
| Amino Acid Change: | asp 487 --> asn |
| Last updated: | 2024-09-24 |
| 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, Lochmüller 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, 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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