Muscular Dystrophy, Limb-Girdle, Type 2I
| Disorder | |
|---|---|
| OMIM #: | #607155 (Click to access OMIM database) |
| Disorder: | Muscular Dystrophy, Limb-Girdle, Type 2I |
| Also known as: | LGMD2I LGMDR9 Limb-girdle muscular dystrophy-dystroglycanopathy (type C5 MDDGC5) |
| Clinical | |
| Phenotype: | muscle weakness, muscle wasting in the shoulder and pelvic girdles, macroglossia, cardiomyopathy, respiratory distress due to weakness of respiratory muscles, muscular pseudohypertrophy, increased serum creatine kinase |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | Autosomal recessive |
| Mutations | |
| 1 Hutterite | |
| Gene: | FKRP |
| Base Change: | C>A, at nucleotide 826 |
| Amino Acid Change: | leu 276 --> ile |
| Last updated: | 2022-11-08 |
| References |
|---|
| 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, Greenberg CR, Tennese AA, Lamont R, Nylen E, Hirst C, Frappier D, Roslin NM, Zaik M, Bushby K, Straub V, Zatz M, de Paula F, Morgan K, Fujiwara TM, Wrogemann K. (2005) The most common mutation in FKRP causing limb girdle muscular dystrophy type 2I (LGMD2I) may have occurred only once and is present in Hutterites and other populations. Hum Mutat 25(1): 38-44. PubMed ID: 15580560 |
| Miskew Nichols B, Nikhanj A, Wang F, Freed DH, Oudit GY. (2018) Advanced Dilated Cardiomyopathy in a Patient With Hutterite Limb-Girdle Muscular Dystrophy: Use of a Left Ventricular Assist Device. Circ Heart Fail Apr;11(4):e004960. PubMed ID: 29626101 |
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