Congenital myopathies

Research output: Contribution to journalArticle

Abstract

The congenital myopathies encompass a group of neuromuscular disorders with characteristic morphologic abnormalities in skeletal muscle, including nemaline myopathy, central core disease, multi-minicore disease, and myotubular myopathy. Giant steps have been made in our understanding of the molecular bases of these disorders, all of which show remarkable genetic heterogeneity. This review of congenital myopathies examines progress in defining clinical diagnostic criteria and novel genetic advances that have provided important clues regarding their pathogeneses.

Original languageEnglish
Pages (from-to)68-73
Number of pages6
JournalCurrent Neurology and Neuroscience Reports
Volume4
Issue number1
Publication statusPublished - Jan 2004

Fingerprint

Myotonia Congenita
Central Core Myopathy
Nemaline Myopathies
Congenital Structural Myopathies
Genetic Heterogeneity
Skeletal Muscle
Minicore Myopathy with External Ophthalmoplegia

ASJC Scopus subject areas

  • Medicine(all)
  • Neuroscience(all)

Cite this

Congenital myopathies. / Bruno, Claudio; Minetti, Carlo.

In: Current Neurology and Neuroscience Reports, Vol. 4, No. 1, 01.2004, p. 68-73.

Research output: Contribution to journalArticle

@article{5ff7662343f348ea84d6adf0337a72b1,
title = "Congenital myopathies",
abstract = "The congenital myopathies encompass a group of neuromuscular disorders with characteristic morphologic abnormalities in skeletal muscle, including nemaline myopathy, central core disease, multi-minicore disease, and myotubular myopathy. Giant steps have been made in our understanding of the molecular bases of these disorders, all of which show remarkable genetic heterogeneity. This review of congenital myopathies examines progress in defining clinical diagnostic criteria and novel genetic advances that have provided important clues regarding their pathogeneses.",
author = "Claudio Bruno and Carlo Minetti",
year = "2004",
month = "1",
language = "English",
volume = "4",
pages = "68--73",
journal = "Current Neurology and Neuroscience Reports",
issn = "1528-4042",
publisher = "Current Medicine Group",
number = "1",

}

TY - JOUR

T1 - Congenital myopathies

AU - Bruno, Claudio

AU - Minetti, Carlo

PY - 2004/1

Y1 - 2004/1

N2 - The congenital myopathies encompass a group of neuromuscular disorders with characteristic morphologic abnormalities in skeletal muscle, including nemaline myopathy, central core disease, multi-minicore disease, and myotubular myopathy. Giant steps have been made in our understanding of the molecular bases of these disorders, all of which show remarkable genetic heterogeneity. This review of congenital myopathies examines progress in defining clinical diagnostic criteria and novel genetic advances that have provided important clues regarding their pathogeneses.

AB - The congenital myopathies encompass a group of neuromuscular disorders with characteristic morphologic abnormalities in skeletal muscle, including nemaline myopathy, central core disease, multi-minicore disease, and myotubular myopathy. Giant steps have been made in our understanding of the molecular bases of these disorders, all of which show remarkable genetic heterogeneity. This review of congenital myopathies examines progress in defining clinical diagnostic criteria and novel genetic advances that have provided important clues regarding their pathogeneses.

UR - http://www.scopus.com/inward/record.url?scp=1542434955&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=1542434955&partnerID=8YFLogxK

M3 - Article

C2 - 14683632

AN - SCOPUS:1542434955

VL - 4

SP - 68

EP - 73

JO - Current Neurology and Neuroscience Reports

JF - Current Neurology and Neuroscience Reports

SN - 1528-4042

IS - 1

ER -