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 | |
| State | Published - Jul 2007 |
| Externally published | Yes |
Fingerprint
Keywords
- Asymmetrical muscle atrophy
- CAPN3 gene
- Compound heterozygote
- LGMD2A
ASJC Scopus subject areas
- Clinical Neurology
- Neuroscience(all)
Cite this
A unique case of limb-girdle muscular dystrophy type 2A carrying novel compound heterozygous mutations in the human CAPN3 gene. / Matsubara, E.; Tsuchiya, A.; Minami, N.; Nishino, I.; Pappolla, Miguel; Shoji, M.; Abe, K.
In: European Journal of Neurology, Vol. 14, No. 7, 07.2007, p. 819-822.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - A unique case of limb-girdle muscular dystrophy type 2A carrying novel compound heterozygous mutations in the human CAPN3 gene
AU - Matsubara, E.
AU - Tsuchiya, A.
AU - Minami, N.
AU - Nishino, I.
AU - Pappolla, Miguel
AU - Shoji, M.
AU - Abe, K.
PY - 2007/7
Y1 - 2007/7
N2 - 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.
AB - 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.
KW - Asymmetrical muscle atrophy
KW - CAPN3 gene
KW - Compound heterozygote
KW - LGMD2A
UR - http://www.scopus.com/inward/record.url?scp=34347354376&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=34347354376&partnerID=8YFLogxK
U2 - 10.1111/j.1468-1331.2007.01808.x
DO - 10.1111/j.1468-1331.2007.01808.x
M3 - Article
VL - 14
SP - 819
EP - 822
JO - European Journal of Neurology
JF - European Journal of Neurology
SN - 1351-5101
IS - 7
ER -