Amish, Mennonite, and Hutterite
Genetic Disorder Database

Muscular Dystrophy, Limb-Girdle, Type 2I

OMIM #: #607155  (Click to access OMIM database)
Disorder: Muscular Dystrophy, Limb-Girdle, Type 2I 
Also known as: LGMD2I
Limb-girdle muscular dystrophy-dystroglycanopathy (type C5
Phenotype: muscle weakness, muscle wasting in the shoulder and pelvic girdles, macroglossia, cardiomyopathy, respiratory distress due to weakness of respiratory muscles, muscular pseudohypertrophy 
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
1   Hutterite  
Gene: FKRP
Base Change: C>A, at nucleotide 826
Amino Acid Change: leu 276 --> ile
Last updated: 2020-02-03 

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