TY - JOUR
T1 - Recessive RYR1 mutations in a patient with severe congenital nemaline myopathy with ophthalomoplegia identified through massively parallel sequencing
AU - Kondo, Eri
AU - Nishimura, Takafumi
AU - Kosho, Tomoki
AU - Inaba, Yuji
AU - Mitsuhashi, Satomi
AU - Ishida, Takefumi
AU - Baba, Atsushi
AU - Koike, Kenichi
AU - Nishino, Ichizo
AU - Nonaka, Ikuya
AU - Furukawa, Toru
AU - Saito, Kayoko
PY - 2012/4
Y1 - 2012/4
N2 - Nemaline myopathy (NM) is a group of congenital myopathies, characterized by the presence of distinct rod-like inclusions "nemaline bodies" in the sarcoplasm of skeletal muscle fibers. To date, ACTA1, NEB, TPM3, TPM2, TNNT1, and CFL2 have been found to cause NM. We have identified recessive RYR1 mutations in a patient with severe congenital NM, through high-throughput screening of congenital myopathy/muscular dystrophy-related genes using massively parallel sequencing with target gene capture. The patient manifested fetal akinesia, neonatal severe hypotonia with muscle weakness, respiratory insufficiency, swallowing disturbance, and ophthalomoplegia. Skeletal muscle histology demonstrated nemaline bodies and small type 1 fibers, but without central cores or minicores. Congenital myopathies, a molecularly, histopathologically, and clinically heterogeneous group of disorders are considered to be a good candidate for massively parallel sequencing.
AB - Nemaline myopathy (NM) is a group of congenital myopathies, characterized by the presence of distinct rod-like inclusions "nemaline bodies" in the sarcoplasm of skeletal muscle fibers. To date, ACTA1, NEB, TPM3, TPM2, TNNT1, and CFL2 have been found to cause NM. We have identified recessive RYR1 mutations in a patient with severe congenital NM, through high-throughput screening of congenital myopathy/muscular dystrophy-related genes using massively parallel sequencing with target gene capture. The patient manifested fetal akinesia, neonatal severe hypotonia with muscle weakness, respiratory insufficiency, swallowing disturbance, and ophthalomoplegia. Skeletal muscle histology demonstrated nemaline bodies and small type 1 fibers, but without central cores or minicores. Congenital myopathies, a molecularly, histopathologically, and clinically heterogeneous group of disorders are considered to be a good candidate for massively parallel sequencing.
KW - Fetal akinesia
KW - Massively parallel sequencing
KW - Nemaline myopathy (NM)
KW - Ophthalomoplegia
KW - The ryanodine receptor type 1 gene (RYR1)
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U2 - 10.1002/ajmg.a.35243
DO - 10.1002/ajmg.a.35243
M3 - Article
C2 - 22407809
AN - SCOPUS:84859004028
VL - 158 A
SP - 772
EP - 778
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
SN - 1552-4825
IS - 4
ER -