A case of congenital myopathy with myonuclear changes consistent with apoptotic degeneration in a 4-year-old girl is reported from the National Institute of Neuroscience, Tokyo, Japan
The congenital myopathies are a group of early-onset, non-dystrophic neuromuscular conditions with c...
Congenital Myasthenic Syndromes (CMS) are rare inherited disorders characterized by dysfunction of n...
An infant girl with arachnodactyly and spontaneously resolving contractures who died in cardiac fail...
A Japanese boy with nemaline myopathy diagnosed at three years of age and complicated by severe resp...
Congenital neuromuscular disease with uniform type 1 fiber (CNMDU1) is a rare but distinct form of n...
Free Paper Presentation -FP1Congenital myopathies are a group of childhood-onset neuromuscular disor...
Congenital myopathies are clinical and genetic heterogeneous disorders characterized by skeletal mus...
ABSTRACT: Congenital myopathies are a group of primary hereditary, clinically and genetically hetero...
Congenital myopathies form a clinically, genetically, and morphologically heterogeneous group of neu...
Background: Nemaline myopathy is a rare, non progressive congenital skeletal muscle disorder defined...
The case of a neonate with a rapidly fatal course of nemaline myopathy is reported. Neonatal history...
See Cannon (doi:10.1093/brain/awv400) for a scientific commentary on this article.Congenital myopath...
<p>The paper presents the current views regarding the concept of unity of pathological changes in th...
Congenital myopathies comprise a clinical, histopathological, and genetic heterogeneous group of rar...
A Chinese-American family with a severe X-linked congenital autophagic vacuolar myopathy (AVM) affec...
The congenital myopathies are a group of early-onset, non-dystrophic neuromuscular conditions with c...
Congenital Myasthenic Syndromes (CMS) are rare inherited disorders characterized by dysfunction of n...
An infant girl with arachnodactyly and spontaneously resolving contractures who died in cardiac fail...
A Japanese boy with nemaline myopathy diagnosed at three years of age and complicated by severe resp...
Congenital neuromuscular disease with uniform type 1 fiber (CNMDU1) is a rare but distinct form of n...
Free Paper Presentation -FP1Congenital myopathies are a group of childhood-onset neuromuscular disor...
Congenital myopathies are clinical and genetic heterogeneous disorders characterized by skeletal mus...
ABSTRACT: Congenital myopathies are a group of primary hereditary, clinically and genetically hetero...
Congenital myopathies form a clinically, genetically, and morphologically heterogeneous group of neu...
Background: Nemaline myopathy is a rare, non progressive congenital skeletal muscle disorder defined...
The case of a neonate with a rapidly fatal course of nemaline myopathy is reported. Neonatal history...
See Cannon (doi:10.1093/brain/awv400) for a scientific commentary on this article.Congenital myopath...
<p>The paper presents the current views regarding the concept of unity of pathological changes in th...
Congenital myopathies comprise a clinical, histopathological, and genetic heterogeneous group of rar...
A Chinese-American family with a severe X-linked congenital autophagic vacuolar myopathy (AVM) affec...
The congenital myopathies are a group of early-onset, non-dystrophic neuromuscular conditions with c...
Congenital Myasthenic Syndromes (CMS) are rare inherited disorders characterized by dysfunction of n...
An infant girl with arachnodactyly and spontaneously resolving contractures who died in cardiac fail...