Zobrazeno 1 - 2 of 2 pro vyhledávání: '"Jeremy C. Chemla"'
1
Two children with 'dropped head' syndrome due to lamin A/C mutations
Autor: Ronald J. Kanter, Edward C. Smith, Jeremy C. Chemla, Michael P. Carboni
Publikováno v: Muscle & Nerve. 42:839-841
LMNA-related congenital muscular dystrophy (L-CMD) is a recently described disorder characterized by infantile-onset myopathy due to mutations in the lamin A/C (LMNA) gene. We report the genetic and clinical characteristics of two unrelated L-CMD pat
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::e81c6c5b3d1768d78821738b4e060e4b
https://doi.org/10.1002/mus.21820
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2
Two children with 'dropped head' syndrome due to lamin A/C mutations
Autor: Jeremy C, Chemla, Ronald J, Kanter, Michael P, Carboni, Edward C, Smith
Publikováno v: Musclenerve. 42(5)
LMNA-related congenital muscular dystrophy (L-CMD) is a recently described disorder characterized by infantile-onset myopathy due to mutations in the lamin A/C (LMNA) gene. We report the genetic and clinical characteristics of two unrelated L-CMD pat
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::33494d0279d6ed390d3a40b2572f01c1
https://pubmed.ncbi.nlm.nih.gov/20886652
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Plný text Recenzováno Digitální knihovna AV ČR
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