Eight patients (Table 1, 1.1–6) from six unrelated families were included in this study. The first 7 patients (1.1–5) were previously reported as suspected DMRV without genetic confirmation in Chinese ...

Laing distal myopathy (MPD1, early-onset distal myopathy). When a mutation is identified by bi-directional direct sequencing, the test is repeated from a fresh dilution of genomic DNA.

New avenues are now being opened for future treatment of Laing distal myopathy, a rare disorder that causes muscles in the feet, hands and elsewhere to atrophy. In a study published in the journal ...

New avenues are now being opened for future treatment of Laing distal myopathy, a rare disorder that causes muscles in the feet, hands and elsewhere to atrophy. In a study published in the journal ...

A drug to treat distal myopathy — a rare disorder characterized by progressive weakness of the distal muscles of the hands and feet, with patients losing the ability to walk in roughly 10 years — was ...

Researchers at Karolinska Institutet have discovered the underlying cause of a hereditary muscle disease first characterised in a Swedish family in 1980. It proves to be the first identified disease ...

Mean change in UEC total score from the start of the Phase2/3 study (Week 0) to the final evaluation time point (Week 120) of the extension study. Closed circle and solid line, SA-ER/SA-ER group; open ...

GAITHERSBURG, Md.--(BUSINESS WIRE)--Leadiant Biosciences, Inc. today announced it has entered into a license agreement and cooperative research and development agreement (CRADA) with the National ...

I am studying Laing Distal Myopathy (MPD1), an inherited condition that causes progressive muscle weakness in the extremities and has no cure. MPD1 is caused by mutations in β-myosin, the primary ...

NOVATO, Calif., Aug. 15, 2011 /PRNewswire/ -- Ultragenyx Pharmaceutical Inc., a biotechnology company focused on developing treatments for rare and ultra-rare genetic disorders, today announced the ...

Initially, the team attributed the muscle weakness to either HIV or drug-mediated myopathy but a muscle biopsy later revealed atrophy of type II fibers without necrosis or inflammation. A case ...

Switch Control Inhibition of KIT and PDGFRA in Patients With Advanced Gastrointestinal Stromal Tumor: A Phase I Study of Ripretinib Laparoscopic distal gastrectomy is oncologically safe and can be ...