Spinal Muscular Atrophy

Camptocormia as presenting sign in myofibrillar myopathy

Skeletal muscle biology / Spinal Muscular Atrophy / Humans / Mutation / Female / Medical Physiology / Clinical Sciences / Aged / Neuromuscular Disorders / Disease Progression / Myofibrils / Neurosciences / Age of Onset / Medical Physiology / Clinical Sciences / Aged / Neuromuscular Disorders / Disease Progression / Myofibrils / Neurosciences / Age of Onset

Congenital contractural arachnodactyly with neurogenic muscular atrophy: case report

Cognitive Science / Spinal Muscular Atrophy / Case Report / Humans / Female / Marfan syndrome / Clinical Sciences / Contracture / Marfan syndrome / Clinical Sciences / Contracture

Acute intermittent porphyria presenting as progressive muscular atrophy in a young black man

Spinal Muscular Atrophy / Humans / Male / Young Adult / Heme / Arginine

Nuclear Magnetic Resonance Spectroscopy

Chemical Engineering / Analytical Chemistry / Inorganic Chemistry / Organic Chemistry / Chemical Education / Education / Skeletal muscle biology / Organometallic Chemistry / Magnetic Resonance Spectroscopy / Energy Metabolism / Phosphorus / Spinal Muscular Atrophy / Humans / Phosphofructokinase / Animals / Muscles / Clinical Sciences / CHEMICAL SCIENCES / Neoplasms / Chest / Phosphates / Cardiovascular Diseases / Hydrogen-Ion Concentration / Adenosine Triphosphate / Adenosine Diphosphate / Nuclear Magnetic Resonance Spectroscopy / Phosphocreatine / Education / Skeletal muscle biology / Organometallic Chemistry / Magnetic Resonance Spectroscopy / Energy Metabolism / Phosphorus / Spinal Muscular Atrophy / Humans / Phosphofructokinase / Animals / Muscles / Clinical Sciences / CHEMICAL SCIENCES / Neoplasms / Chest / Phosphates / Cardiovascular Diseases / Hydrogen-Ion Concentration / Adenosine Triphosphate / Adenosine Diphosphate / Nuclear Magnetic Resonance Spectroscopy / Phosphocreatine

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