Early-onset benign limb-girdle myopathy with contractures and facial involvement affecting a father and daughter

A Malandrini; C Scarpini; G M Fabrizi; E Parrotta; C Salvadori; G C Guazzi

doi:10.1016/0022-510x(95)00156-v

Early-onset benign limb-girdle myopathy with contractures and facial involvement affecting a father and daughter

J Neurol Sci. 1995 Oct;132(2):195-200. doi: 10.1016/0022-510x(95)00156-v.

Authors

A Malandrini¹, C Scarpini, G M Fabrizi, E Parrotta, C Salvadori, G C Guazzi

Affiliation

¹ Institute of Neurological Sciences, University of Siena, Italy.

PMID: 8543948
DOI: 10.1016/0022-510x(95)00156-v

Abstract

We describe a father and daughter with early-onset benign limb-girdle myopathy and contractures of elbows and hands, resembling Bethlem disease. Muscle biopsy showed a pattern of dystrophy with non specific mitochondrial changes. In both patients there was unusual facial muscle weakness. We discuss the nosologic position of Bethlem myopathy and suggest that facial involvement may be an additional feature of this disease.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Adenosine Triphosphatases / metabolism
Adult
Aged
Blotting, Southern
Elbow / pathology
Elbow / physiopathology
Extremities / pathology
Extremities / physiopathology*
Facial Muscles / pathology
Facial Muscles / physiopathology
Female
Hand / pathology
Hand / physiopathology
Humans
Male
Mitochondria, Muscle / physiology
Muscle Contraction / physiology
Muscle Weakness / genetics
Muscle Weakness / pathology
Muscle Weakness / physiopathology
Muscle, Skeletal / pathology
Muscle, Skeletal / physiopathology
Muscular Dystrophies / genetics
Muscular Dystrophies / pathology
Muscular Dystrophies / physiopathology*
Neurologic Examination
Polymerase Chain Reaction

Substances

Adenosine Triphosphatases