Titlebook: Genetic Neuromuscular Disorders; A Case-Based Approac Corrado Angelini Book 20141st edition Springer International Publishing Switzerland 2

defray

Congenital Muscular Dystrophy Type 1Aagnosis is based on muscle biopsy that documents merosin deficiency. MRI reveals diffuse abnormalities in brain white matter, typically sparing the corpus callosum, capsula interna, and cerebellum. CK is increased in the initial phase of the disease. Prenatal diagnosis is possible by chorionic villu

ADORN

Duchenne Muscular Dystrophyneration of skeletal and cardiac muscles. The onset of symptoms occurs in early childhood, and affected boys never achieve the ability to run or jump. The disease progresses rapidly, and the patients develop a waddling gait and a positive Gowers’ sign and have difficulty in climbing stairs, with fre

GEN

orthopedist