TY - JOUR
T1 - Congenital myopathies
T2 - clinical phenotypes and new diagnostic tools
AU - Lenzi, Sara
AU - Cassandrini, Denise
AU - Fiorillo, Chiara
AU - Baldacci, Jacopo
AU - Minetti, Carlo
AU - Astrea, Guja
AU - Bruno, Claudio
AU - Santorelli, Filippo M
AU - Italian Network on Congenital Myopathies
PY - 2017/11/15
Y1 - 2017/11/15
N2 - Congenital myopathies are a group of genetic muscle disorders characterized clinically by hypotonia and weakness, usually from birth, and a static or slowly progressive clinical course. Historically, congenital myopathies have been classified on the basis of major morphological features seen on muscle biopsy. However, different genes have now been identified as associated with the various phenotypic and histological expressions of these disorders, and in recent years, because of their unexpectedly wide genetic and clinical heterogeneity, next-generation sequencing has increasingly been used for their diagnosis. We reviewed clinical and genetic forms of congenital myopathy and defined possible strategies to improve cost-effectiveness in histological and imaging diagnosis.
AB - Congenital myopathies are a group of genetic muscle disorders characterized clinically by hypotonia and weakness, usually from birth, and a static or slowly progressive clinical course. Historically, congenital myopathies have been classified on the basis of major morphological features seen on muscle biopsy. However, different genes have now been identified as associated with the various phenotypic and histological expressions of these disorders, and in recent years, because of their unexpectedly wide genetic and clinical heterogeneity, next-generation sequencing has increasingly been used for their diagnosis. We reviewed clinical and genetic forms of congenital myopathy and defined possible strategies to improve cost-effectiveness in histological and imaging diagnosis.
KW - Journal Article
KW - Review
U2 - 10.1186/s13052-017-0419-z
DO - 10.1186/s13052-017-0419-z
M3 - Review article
C2 - 29141652
VL - 43
SP - 101
JO - Italian Journal of Pediatrics
JF - Italian Journal of Pediatrics
SN - 1720-8424
IS - 1
ER -