The congenital myopathies are a group of early-onset, non-dystrophic neuromuscular
conditions with characteristic muscle biopsy findings, variable severity and a stable or slowly …

Mitochondria are complex organelles that harbour their own genome. Mitochondrial DNA
(mtDNA) exists in the form of a circular double-stranded DNA molecule that must be …

Objective: To identify causative genes for centronuclear myopathies (CNM), a
heterogeneous group of rare inherited muscle disorders that often present in infancy or early …

Centronuclear myopathies (CNM) are congenital disorders associated with muscle
weakness and abnormally located nuclei in skeletal muscle. An autosomal dominant form of …

Centronuclear myopathies (CNM) are rare congenital disorders characterized by muscle
weakness and structural defects including fiber hypotrophy and organelle mispositioning …

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

Congenital myopathies are a clinically and genetically heterogeneous group of conditions
that most commonly present at or around the time of birth with hypotonia, muscle weakness …

Centronuclear myopathies (CNMs) are a genetically heterogeneous group of inherited
neuromuscular disorders characterized by clinical features of a congenital myopathy and …

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 …

Congenital myasthenic syndromes are a clinically and genetically heterogeneous group of
rare diseases resulting from impaired neuromuscular transmission. Their clinical hallmark is …