A unique case of limb-girdle muscular dystrophy type 2A carrying novel compound heterozygous mutations in the human CAPN3 gene

E. Matsubara; A. Tsuchiya; N. Minami; I. Nishino; M. A. Pappolla; M. Shoji; K. Abe

doi:10.1111/j.1468-1331.2007.01808.x

A unique case of limb-girdle muscular dystrophy type 2A carrying novel compound heterozygous mutations in the human CAPN3 gene

E. Matsubara, A. Tsuchiya, N. Minami, I. Nishino, M. A. Pappolla, M. Shoji, K. Abe

Research output: Contribution to journal › Article

3 Scopus citations

Abstract

A unique sib pair afflicted by limb girdle muscular dystrophy type 2A (LGMD2A) is described showing a slowly progressive autosomal recessive type of muscular dystrophy with onset in the third and fourth decades. The patients had early asymmetric muscle involvement characterized by prominent biceps brachii atrophy with sparing of the knee extensors. Additional findings included elevation of serum creatine kinase level, myopathic EMG changes and dystrophic type of pathology on muscle biopsy. Asymmetrical wasting of muscles in the extremities exhibited uniform and highly selective CT imaging patterns. RNA and DNA analyses confirmed novel compound heterozygous mutations (R147X/L212F) in the human CAPN3 gene.

Original language	English (US)
Pages (from-to)	819-822
Number of pages	4
Journal	European Journal of Neurology
Volume	14
Issue number	7
DOIs	https://doi.org/10.1111/j.1468-1331.2007.01808.x
State	Published - Jul 1 2007
Externally published	Yes

Keywords

Asymmetrical muscle atrophy
CAPN3 gene
Compound heterozygote
LGMD2A

ASJC Scopus subject areas

Neurology
Clinical Neurology

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Matsubara, E., Tsuchiya, A., Minami, N., Nishino, I., Pappolla, M. A., Shoji, M., & Abe, K. (2007). A unique case of limb-girdle muscular dystrophy type 2A carrying novel compound heterozygous mutations in the human CAPN3 gene. European Journal of Neurology, 14(7), 819-822. https://doi.org/10.1111/j.1468-1331.2007.01808.x

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abstract = "A unique sib pair afflicted by limb girdle muscular dystrophy type 2A (LGMD2A) is described showing a slowly progressive autosomal recessive type of muscular dystrophy with onset in the third and fourth decades. The patients had early asymmetric muscle involvement characterized by prominent biceps brachii atrophy with sparing of the knee extensors. Additional findings included elevation of serum creatine kinase level, myopathic EMG changes and dystrophic type of pathology on muscle biopsy. Asymmetrical wasting of muscles in the extremities exhibited uniform and highly selective CT imaging patterns. RNA and DNA analyses confirmed novel compound heterozygous mutations (R147X/L212F) in the human CAPN3 gene.",

keywords = "Asymmetrical muscle atrophy, CAPN3 gene, Compound heterozygote, LGMD2A",

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AU - Tsuchiya, A.

AU - Minami, N.

AU - Nishino, I.

AU - Pappolla, M. A.

AU - Shoji, M.

AU - Abe, K.

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