“Miyoshi Myopathy”, Victor McKusick, Mendelian Inheritance in Man, 1966. 三好肌病。(MM).

Here I present: “Miyoshi Myopathy”, Victor McKusick, Mendelian Inheritance in Man’, 1966. 三好肌病。(MM).

INTRODUCTION.

Dysferlin also known as dystrophy-associated fer-1-like protein is a protein that in humans is encoded by the DYSF gene.  Dysferlin is linked with plasma membrane repair, stabilization of calcium signaling and the development of the T-tubule system of the muscle. A defect in the DYSF gene, located on chromosome 2p13.2, results in several types of muscular dystrophy; including Miyoshi myopathy (MM), Limb-girdle muscular dystrophy type-2B (LGMD2B) and Distal Myopathy (DM). A reduction or absence of dysferlin, termed dysferlinopathy, usually becomes apparent in the third or fourth decade of life and is characterized by weakness and wasting of various voluntary skeletal muscles. Pathogenic mutations leading to dysferlinopathy can occur throughout the DYSF gene.

There is evidence Miyoshi muscular dystrophy type-1 (MMD1) is caused by homozygous or compound heterozygous mutation in the dysferlin gene (DYSF) on cytogenetic location 2p13.2 and genomic coordinates 2:71,453,561-71,686,763 .   The screenshot of the DYSF gene 233,203 bp (base pairs) of DNA sequence length is shown BELOW.   Nine (9) other genes besides DYSF in the 2p13.2 cytogenetic location are listed BENEATH.