Results 51 to 60 of about 1,335 (167)
Distrofias musculares congénitas
Revista Médica Clínica Las Condes, 2018 Resumen: Las distrofias musculares congénitas (DMC) son enfermedades musculares hereditarias muy heterogéneas. Su diagnóstico se basa en criterios histológicos (signos distróficos en músculo) y clínicos (de inicio neonatal o durante la infancia precoz ...
Susana Quijano-Roy, MD, PhD +1 more
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Limb girdle muscular dystrophy 23 caused by compound heterozygous mutations of LAMA2 gene
Frontiers in Pediatrics, 2023 IntroductionMutations of LAMA2 gene are associated with congenital muscular dystrophy (CMD). The LAMA2-related CMD mainly consists of two diseases, merosin deficient congenital muscular dystrophies type 1A (MDC1A) and limb girdle muscular dystrophy 23 ...
Yuqing Xu +6 more
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Therapeutic Advances in Endocrinology and Metabolism, 2019 The laminin subunit alpha 2 (LAMA2) gene encodes an alpha 2 chain, which constitutes one of the subunits of laminin 2 (merosin) and laminin 4 (s-merosin).
Ruo-Qiang Wang +14 more
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Arthritis &Rheumatology, Volume 77, Issue 5, Page 506-520, May 2025.Clinical tools that can aid in the diagnostic differentiation of juvenile dermatomyositis from muscular dystrophy.
Jacqueline A. Madison +9 more
wiley +1 more source
Pediatric Pulmonology, Volume 60, Issue 1, January 2025.ABSTRACT Background An accurate height estimate is important for assessing pulmonary function, and body mass index. If a patient cannot stand, an accurate standing height cannot be directly measured. Knee‐heel length, arm span, ulnar length, and tibial length have been studied in otherwise healthy populations as single measurements for height ...
Kayleen Whitley +3 more
wiley +1 more source
Molecular Genetics &Genomic Medicine, Volume 12, Issue 11, November 2024.All the LGMDs molecularly confirmed in this study were the ones clinically suspected to be DMD/BMD. Here in this study, we have attempted to understand age at onset in the patients, could be a differentiating factor to distinguish DMD/BMD from other muscular dystrophies.
Priya Karthikeyan +3 more
wiley +1 more source
Midbrain and Hindbrain Involvement in Lissencephaly
Pediatric Neurology Briefs, 2009 Involvement of the midbrain and hindbrain (MHB) in the various groups of lissencephalies was examined in an MRI study of 111 patients (aged 1 day to 32 years; mean 5 years 4 months) studied at University of California San Francisco, and centers in France,
J Gordon Millichap
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Annals of Clinical and Translational Neurology, Volume 11, Issue 9, Page 2392-2405, September 2024.Abstract Objective The objective of the study is to characterize the pathomechanisms underlying actininopathies. Distal myopathies are a group of rare, inherited muscular disorders characterized by progressive loss of muscle fibers that begin in the distal parts of arms and legs. Recently, variants in a new disease gene, ACTN2, have been shown to cause
Johanna Ranta‐aho +16 more
wiley +1 more source
Эпилепсия и пароксизмальные состоянияBackground. Merosin-deficient muscular dystrophy (MDMD) is a neuromuscular disease resulting from the emergence of biallelic variants in the LAMA2 gene and manifested by progressive muscle weakness, diffuse hypotonia, impaired posture, contractures of ...
A. V. Monakhova +2 more
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BMC Research Notes, 2011 Background Congenital muscular dystrophy type 1A is caused by mutations in the LAMA2 gene that encodes the laminin α2 chain, a component of the skeletal muscle extracellular matrix protein laminin-211.
Di Blasi Claudia +12 more
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