Neuromuscular disorders comprise a diverse group of human inborn diseases that arise
from defects in the structure and/or function of the muscle tissue—encompassing the muscle …

Nemaline myopathies are a heterogenous group of congenital myopathies caused by de
novo, dominantly or recessively inherited mutations in at least twelve genes. The genes …

Purpose With growing evidence that rare single gene disorders present in the neonatal
period, there is a need for rapid, systematic, and comprehensive genomic diagnoses in ICUs …

PURPOSE OF REVIEW Congenital muscular dystrophies and congenital myopathies are a
heterogeneous group of disorders resulting in hypotonia, muscle weakness, and dystrophic …

Mutations in the sarcomeric protein titin, encoded by TTN, are emerging as a common cause
of myopathies. The diagnosis of a TTN-related myopathy is, however, often not …

Purpose High throughput sequencing analysis has facilitated the rapid analysis of the entire
titin (TTN) coding sequence. This has resulted in the identification of a growing number of …

Abstract The majority (85%) of nonsyndromic cleft lip with or without cleft palate (nsCL/P)
cases occur sporadically, suggesting a role for de novo mutations (DNMs) in the etiology of …

Background Fetal akinesia and arthrogryposis are clinically and genetically heterogeneous
and have traditionally been refractive to genetic diagnosis. The widespread availability of …

Objective To clarify the prevalence, long-term natural history, and severity determinants of
SEPN1-related myopathy (SEPN1-RM), we analyzed a large international case series …

Distal myopathies are genetic primary muscle disorders with a prominent weakness at onset
in hands and/or feet. The age of onset (from early childhood to adulthood), the distribution of …