Results 191 to 200 of about 35,591 (238)

Congenital myopathies and congenital muscular dystrophies

Current Opinion in Neurology, 2001
Congenital myopathies and congenital myopathic dystrophies are distinct groups of inherited diseases of muscle, genetically heterogeneous, that manifest in early life or infancy. Congenital myopathic dystrophy is characterized by a dystrophic pattern, whereas no necrotic or degenerative changes are present in congenital myopathies.
N, Tubridy, B, Fontaine, B, Eymard
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Severe Congenital Muscular Dystrophy

Archives of Pediatrics & Adolescent Medicine, 1967
THE history of amyotonia congenita exemplifies impressively how diagnostic inaccuracy hinders scientific progress. Lack of appropriate laboratory tests, clinical follow-ups, and pathological documentation confused the semantics of neonatal and infantile hypotonia for decades.
H, Zellweger, A, Afifi, W F, McCormick, W, Mergner   +3 more
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A form of congenital muscular dystrophy

Brain and Development, 1980
Five children, between 2 and 10 years old, 3 boys and 2 girls, two of them siblings, showed mild clinical and morphological congenital muscular dystrophy. Neuromuscular signs and symptoms being present from birth or early infancy, aggravated only insignificantly during the course of the disease.
H H, Goebel, H G, Lenard, U, Langenbeck, B, Mehl   +3 more
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Congenital Muscular Dystrophies

Neurologic Clinics, 1988
The congenital muscular dystrophies are a group of genetic myopathies characterized by hypotonia, weakness, or arthrogryposis at birth. Classification is inadequate and based entirely upon phenotypic expression, because a genetic marker has not been identified in any of these disorders.
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A variant of congenital muscular dystrophy

Brain and Development, 2002
We analyzed three Japanese patients (two boys and a girl) from two families with congenital muscular dystrophy (CMD) and brain involvement. One of the two families had two affected siblings of different sexes. Parental consanguinity was not documented in either family.
Mieko, Yoshioka, Shigekazu, Kuroki, Hiroshi, Sasaki, Kiyoshi, Baba, Tatsushi, Toda   +4 more
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Congenital muscular dystrophies

2011
Congenital muscular dystrophies (CMDs) are a heterogeneous group of disorders characterized by muscle weakness from birth, or shortly after, and variable clinical manifestations of the eye and central nervous system. Some of these disorders are fatal in the first years of life, whereas others have a milder course, with survival into adulthood. The CMDs
Susan E, Sparks, Diana M, Escolar
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Congenital muscular dystrophies in China

Clinical Genetics, 2019
AbstractCongenital muscular dystrophies (CMDs) are clinically and genetically heterogeneous conditions. We launched a nationwide study to determine the frequency of CMD in the Chinese population and assess the status of diagnosis and disease management for CMD in China.
Lin, Ge, Cheng, Zhang, Zhaoxia, Wang, Sophelia H S, Chan, Wenhua, Zhu, Chunxi, Han, Xiaoli, Zhang, Hong, Zheng, Liwen, Wu, Bo, Jin, Jingli, Shan, Bing, Mao, Jianmin, Zhong, Xiaoyin, Peng, Yaying, Cheng, Jun, Hu, Yan, Sun, Junlan, Lu, Ying, Hua, Sainan, Zhu, Cuijie, Wei, Shuo, Wang, Hui, Jiao, Haipo, Yang, Xiaona, Fu, Yanbin, Fan, Xingzhi, Chang, Shuang, Wang, Xinhua, Bao, Yuehua, Zhang, Jingmin, Wang, Ye, Wu, Yuwu, Jiang, Yun, Yuan, Anne, Rutkowski, Carsten G, Bönnemann, Wei, Wei, Xiru, Wu, Hui, Xiong   +38 more
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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, M, Nakagawa, S, Takeda   +2 more
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Congenital Myopathies and Muscular Dystrophies

Neurologic Clinics, 2014
The congenital muscular dystrophies (CMD) and myopathies (CM) are a diverse group of diseases that share features such as early onset of symptoms (in the first year of life), genetic causes, and high risks for restrictive lung disease and orthopedic deformities.
Heather R, Gilbreath, Diana, Castro, Susan T, Iannaccone   +2 more
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Congenital Muscular Dystrophy with Leukoencephalopathy

European Neurology, 1989
Two patients with 'benign' congenital muscular dystrophy (CMD) have been observed for several years. Symptoms and signs of central nervous system (CNS) disease occurred at the age of 7 and 16 years, respectively. CNS involvement in CMD may be more common than generally recognized, slowly progressive and delayed in onset.
E W, Streib, C H, Lucking
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