Results 201 to 210 of about 3,092 (251)

A Neonatal Case of Hemorrhagic Shock Due to Congenital Hemangioma. [PDF]

open access: yesCureus
Kudo M   +4 more
europepmc   +1 more source

Merosin-deficient congenital muscular dystrophy in Korea

open access: greenBrain and Development, 2009
Congenital muscular dystrophy (CMD) is a clinically and genetically heterogeneous group of muscle disorders, presenting at birth or early infancy with hypotonia, muscle weakness, joint contractures, and dystrophic changes in the muscles. Merosin-deficient CMD (MDCMD) is rare in Asian populations, but more common in Caucasians, comprising about 50% of ...
Jong-Hee, Chae   +9 more
openaire   +4 more sources

Severe classical congenital muscular dystrophy and merosin expression

Clinical Genetics, 1998
Vajsar J, Chitayat D, Becker LE, Ho M, Ben‐Zeev B, Jay V. Severe classical congenital muscular dystrophy and merosin expression. Clin Genet 1998: 54: 193–198. 0 Munksgaard, 1998It has been suggested that patients with autosomal recessive merosin deficient congenital muscular dystrophy (CMD), as opposed to the merosin positive cases form a homogeneous ...
Jiří Vajsar   +2 more
exaly   +3 more sources

Merosin and congenital muscular dystrophy

Microscopy Research and Technique, 2000
Merosin (also called as Laminin-2) is an isoform of laminin comprised of the alpha2, beta1 and gamma1 chains. In European populations, half of the patients with classical congenital muscular dystrophy have mutations of the LAMA2 gene (6q22-23) and present reduced or absence of laminin alpha2 chain.
Y, Miyagoe-Suzuki   +2 more
openaire   +2 more sources

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