Myofibrillar myopathies: new developments

M Olivé, RA Kley, LG Goldfarb - Current opinion in neurology, 2013 - journals.lww.com
M Olivé, RA Kley, LG Goldfarb
Current opinion in neurology, 2013journals.lww.com
An increasing number of genes are involved in the causation of variant subtypes of MFM.
The application of modern technologies in combination with classical histopathological and
ultrastructural studies is helping to establish the molecular diagnosis and reach a better
understanding of the pathogenic mechanisms of each MFM subtype, thus putting an
emphasis on the development of specific means for prevention and therapy of these
incapacitating and frequently fatal diseases.
Summary
An increasing number of genes are involved in the causation of variant subtypes of MFM. The application of modern technologies in combination with classical histopathological and ultrastructural studies is helping to establish the molecular diagnosis and reach a better understanding of the pathogenic mechanisms of each MFM subtype, thus putting an emphasis on the development of specific means for prevention and therapy of these incapacitating and frequently fatal diseases.
Lippincott Williams & Wilkins