The phenotype of limb-girdle muscular dystrophy type 2I

Poppe, Maja; Cree, Lynsey; Bourke, John; Eagle, Michelle; Anderson, L.V.B.; Birchall, Daniel; Brockington, Martin; Buddles, M.; Busby, Mark; Muntoni, Francesco; J. Wills, Andy; Bushby, K.

doi:10.1212/01.wnl.0000058902.88181.3d

Public

The phenotype of limb-girdle muscular dystrophy type 2I

Published in Neurology • Apr 22, 2003

Authors:

Maja Poppe

Lynsey Cree

John Bourke

Abstract

BACKGROUND: Mutations in the fukutin-related protein gene FKRP cause limb-girdle muscular dystrophy (LGMD2I) as well as a form of congenital muscular dystrophy (MDC1C). OBJECTIVE: To define the phenotype in LGMD2I. METHODS: The authors assessed 16 patients from 14 families with FKRP gene mutations a...

Subject

Limb-girdle muscular dystrophy

Muscular dystrophy

Dysferlin

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