Early onset, autosomal recessive muscular dystrophy with Emery-Dreifuss phenotype and normal emerin expression.

doi:10.1212/wnl.51.4.1116

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Article

Early onset, autosomal recessive muscular dystrophy with Emery-Dreifuss phenotype and normal emerin expression.

Neurology - 1 Oct 1998

Taylor J, Sewry C A, Dubowitz V, Muntoni F

Abstract excerpt

OBJECTIVE: To describe the clinical and histopathologic picture of a childhood-onset, severe variant of scapuloperoneal MD with rigidity of the spine. BACKGROUND: Rigidity of the spine is a feature of numerous syndromes, including X-linked Emery-Dreifuss MD, Bethlem myopathy, and the rigid spine...

Topics

Age of Onset
Biopsy
Child, Preschool
Contracture
Female
Genes, Recessive
Humans
Infant
Male
Membrane Proteins
Muscle Weakness
Muscle, Skeletal
Muscular Dystrophies
Nuclear Proteins
Phenotype
Thymopoietins
X Chromosome

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