| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 6041245 | Neuromuscular Disorders | 2014 | 8 Pages |
â¢We report a case of cap myopathy due to a mutation in TPM2 mimicking congenital myasthenia.â¢This report expands the spectrum of congenital myopathies with secondary neuromuscular transmission abnormalities.â¢Recognition of these patients is important since they can benefit from drugs enhancing neuromuscular transmission.
Congenital myopathies are a clinically and genetically heterogeneous group of disorders characterized by early onset hypotonia, weakness and characteristic, but not pathognomonic, structural abnormalities in muscle fibres. The clinical features overlap with muscular dystrophies, myofibrillar myopathies, neurogenic conditions and congenital myasthenic syndromes. We describe a case of cap myopathy with myasthenic features due to a mutation in the TPM2 gene that responded to anticholinesterase therapy. We also review other published cases of congenital myopathies with neuromuscular transmission abnormalities. This report expands the spectrum of congenital myopathies with secondary neuromuscular transmission defects. The recognition of these cases is important since these conditions can benefit from treatment with drugs enhancing neuromuscular transmission.
