Clinical and genetic spectrum in limb-girdle muscular dystrophy type 2E.

ABSTRACT:

Objective

To determine the clinical spectrum of limb-girdle muscular dystrophy 2E (LGMD2E) and to investigate whether genetic or biochemical features can predict the phenotype of the disease.

Methods

All LGMD2E patients followed in participating centers were included. A specific clinical protocol was created, including quantitative evaluation of motor, respiratory, and cardiac function. Phenotype was defined as severe or mild if the age at loss of ambulation occurred before or after 18 years. Molecular analysis of SGCB gene and biochemical features of muscle biopsies were reviewed.

Results

Thirty-two patients were included (16 male, 16 female; age 7-67 years; 15 severe, 12 mild, and 5 unknown). Neurologic examination showed proximal muscle weakness in all patients, bu

SUBMITTER: Semplicini C 

PROVIDER: S-EPMC4424130 | biostudies-literature | 2015 Apr

REPOSITORIES: biostudies-literature