Congenital myopathies: clinical phenotypes and new diagnostic tools

被引：78

作者：

Cassandrini, Denise ^{[1
]}

Trovato, Rosanna ^{[1
]}

Rubegni, Anna ^{[1
]}

Lenzi, Sara ^{[2
]}

Fiorillo, Chiara ^{[1
,5
]}

Baldacci, Jacopo ^{[1
]}

Minetti, Carlo ^{[3
,5
]}

Astrea, Guja ^{[2
]}

Bruno, Claudio ^{[4
]}

Santorelli, Filippo M. ^{[1
]}

机构：

[1] IRCCS Fdn Stella Maris, Mol Med, Pisa, Italy

[2] IRCCS Fdn Stella Maris, Neurol, Pisa, Italy

[3] Ist Giannina Gaslini, Unit Pediat Neurol & Muscular Disorders, Genoa, Italy

[4] Ist Giannina Gaslini, Dept Neurosci, Ctr Myol & Neurodegenerat Disorders, Genoa, Italy

[5] Univ Genoa, Dept Neurosci Rehabil Ophthalmol Genet Maternal &, Genoa, Italy

来源：

ITALIAN JOURNAL OF PEDIATRICS | 2017年 / 43卷

关键词：

Congenital myopathy; Next generation sequencing; Muscle MRI; Muscle biopsy; CENTRAL-CORE DISEASE; FIBER-TYPE DISPROPORTION; LINKED MYOTUBULAR MYOPATHY; MUSCLE MAGNETIC-RESONANCE; DNM2-RELATED CENTRONUCLEAR MYOPATHY; RECESSIVE NEMALINE MYOPATHY; MYOSIN STORAGE MYOPATHY; RYANODINE RECEPTOR GENE; MULTI-MINICORE DISEASE; ALPHA-ACTIN GENE;

D O I：

10.1186/s13052-017-0419-z

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

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.

引用

页数：16

共 119 条

[51] Minicore myopathy with ophthalmoplegia caused by mutations in the ryanodine receptor type 1 gene [J].