Article
Floppy infant syndrome as a first manifestation of LMNA-related congenital muscular dystrophy.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society - 1 May 2021
Jędrzejowska Maria, Potulska-Chromik Anna, Gos Monika, Gambin Tomasz, Dębek Emilia, Rosiak Edyta, Stępień Agnieszka, Szymańczak Robert, Wojtaś Bartosz, Gielniewski Bartłomiej, Ciara Elżbieta, Sobczyńska Agnieszka, Chrzanowska Krystyna, Kostera-Pruszczyk Anna, Madej-Pilarczyk Agnieszka
Abstract excerpt
LMNA-related congenital muscular dystrophy (L-CMD) is the most severe phenotypic form of skeletal muscle laminopathies. This paper reports clinical presentation of the disease in 15 Polish patients from 13 families with genetically confirmed skeletal muscle laminopathy. In all these patients floppy infant syndrome was the first manifestation of the disease. The genetic diagnosis was established by next generation...
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