Title: A clinical, pathological and molecular biology features of 81 patients with myotonic myopathies
Abstract:Objective
To study the clinical, pathological and molecular biology features of myotonic myopathies.
Methods
Eighty-one patients with myotonic myopathies, admitted to our hospital from June 200...Objective
To study the clinical, pathological and molecular biology features of myotonic myopathies.
Methods
Eighty-one patients with myotonic myopathies, admitted to our hospital from June 2005 to June 2018, were chosen in our study. All patients accepted clinical and skeletal muscle pathology examination, and genetic features of 55 patients were analyzed by molecular biological method.
Results
(1) All patients suffered from typical myotonia, and electromyography shows typical myotonic discharges; 47 patients exhibited myotonic dystrophy (DM) and 34 patients exhibited non-myotonic dystrophy (NDM). (2) In muscle biopsy of DM, typical central nuclei, pyknotic clumps and sarcoplasmic masses were observed; and characteristic pathological changes were not observed in muscle biopsy of NDM. (3) Totally, 32 DM1 patients, 3 DM2 patients, 9 MC patients and 5 paramyotonia congenita patients were confirmed by molecular biology technology; 7 independent mutations in the CLCN1 gene and 3 independent mutations in the SCN4A gene were novel mutations.
Conclusions
(1) Myotonic myopathies are some single gene inheritance diseases with multisystem disorders and their main symptoms include myotonia. (2) Skeletal muscle biopsy is a trustworthy method for definite diagnosis of myotonic myopathies; gene analysis is the gold standard for diagnosis and classification of myotonic myopathies.
Key words:
Myotonic myopathy; Skeletal muscle biopsy; Pathology; Gene analysisRead More
Publication Year: 2019
Publication Date: 2019-01-15
Language: en
Type: article
Access and Citation
AI Researcher Chatbot
Get quick answers to your questions about the article from our AI researcher chatbot