AJ, Cummings BB, Tukiainen T, Birnbaum DP, Kosmicki JA, Duncan LE, Estrada K, Zhao F, Zou J, Pierce-Hoffman E, Berghout J, Cooper DN, Deflaux N, DePristo M, Do R, Flannick J, Fromer M, Gauthier L, Goldstein J, Gupta N, Howrigan D, Kiezun A, Kurki MI, Moonshine [ncbi.nlm.nih.gov]

Signs of antenatal onset are frequent and comprise reduced fetal movements and polyhydramnios. Thinning of the ribs is observed on chest radiographs of the newborn. Birth asphyxia may be the presenting feature. [orpha.net]

Pregnancy is very often complicated by hydramnios and reduced fetal movements. We describe two families with five affected male babies who all died. [lirias.kuleuven.be]

Antenatally, the mother had polyhydramnios and she also noticed reduced fetal movement during pregnancy. The infant was born floppy with a weak cry and poor respiratory efforts. [jcnonweb.com]

Reduced fetal movements or polyhydramnios were not noticed during pregnancy. At birth he was severely hypotonic with poor respiration, and required immediate ventilator support. He experienced 10 episodes of extubation failure up to 6 months of age. [synapse.koreamed.org]

Currently, the complex pathogenetic mechanisms are better understood and include defects in membrane tubulation and excitation-contraction coupling, providing evidence towards a common basis for the X-linked and autosomal forms of centronuclear myopathy [medlink.com]

Congenital myopathies: disorders of excitation-contraction coupling and muscle contraction. [ncbi.nlm.nih.gov]

PubMed Google Scholar Razzaq A, Robinson IM, McMahon HT, Skepper JN, Su Y, Zelhof AC, Jackson AP, Gay NJ, O'Kane CJ: Amphiphysin is necessary for organization of the excitation-contraction coupling machinery of muscles, but not for synaptic vesicle endocytosis [ojrd.biomedcentral.com]