Muscle biopsy is a minor surgical procedure that involves making an incision in the skin to obtain a few small pieces of the underlying muscle for detailed histologic, histochemical, or biochemical ...

A multi-institutional clinical trial led by Weill Cornell Medicine and NewYork-Presbyterian investigators has shown that a ...

My hands shook as I texted my husband. I felt unmoored in my body, as if I’d awoken in a different house than the one where I ...

The type 1 ryanodine receptor (RyR1) is an important calcium release channel in skeletal muscles essential for muscle ...

Muscle biopsy is used regularly to augment genetic diagnosis, and should be performed, if needed, for molecular diagnosis. A correct molecular diagnosis is highly useful to predict which muscular ...

A nerve biopsy involves the process of removing a small length of a peripheral nerve for histologic examination under the microscope. Several nerves can be biopsied but the major requirement for ...

Rarely, muscle twitching can be a sign of a degenerative neurological condition known as amyotrophic lateral sclerosis (ALS). An older name for the condition is Lou Gehrig’s disease. ALS causes ...

Background and objectives Pompe disease is reportedly less prevalent in Japan than in neighbouring countries, raising a possibility that some patients may be overlooked. Therefore, all muscle biopsy ...

Though progress is being made in an indication with no known cure and only a handful of treatments, the recent wave of ...

We hypothesize that Duchenne muscular dystrophy and autism spectrum disorder/pervasive developmental disorder co-occur with a greater than random frequency. In this study, we set out to reject the ...

We report a woman in her 30s with dysferlinopathy whose diagnosis was masked by superimposed hypothyroidism. Laboratory studies revealed Hashimoto’s thyroiditis and markedly raised serum creatine ...

GENERAL: Correct interpretation of muscle and nerve biopsies is strongly dependent on the clinical setting. It is therefore imperative that pertinent clinical information, including medications and ...