Human (116 sources):
Abnormal facial shape,
Abnormal heart valve morphology,
Abnormality of neutrophils,
Ankle weakness,
Arachnodactyly,
Areflexia,
Arrhythmia,
Atrial fibrillation,
Atrioventricular block,
Axial muscle weakness,
Bifid uvula,
Calf muscle hypertrophy,
Centrally nucleated skeletal muscle fibers,
Clumsiness,
Congestive heart failure,
Delayed gross motor development,
Delayed speech and language development,
Diaphragmatic weakness,
Difficulty climbing stairs,
Difficulty running,
Difficulty walking,
Dilated cardiomyopathy,
Distal muscle weakness,
Distal upper limb muscle weakness,
Dysarthria,
Dysphonia,
Dyspnea,
EMG abnormality,
EMG: decremental response of compound muscle action potential to repetitive nerve stimulation,
EMG: myopathic abnormalities,
Elevated circulating creatine kinase concentration,
Facial diplegia,
Facial palsy,
Failure to thrive,
Falls,
Flexion contracture,
Foot dorsiflexor weakness,
Frequent falls,
Gait disturbance,
Generalized amyotrophy,
Generalized hypotonia,
Generalized muscle weakness,
Gowers sign,
High palate,
High pitched voice,
Hip contracture,
Hip dysplasia,
Hyperlordosis,
Hypertrophic cardiomyopathy,
Hypertrophied muscle fibers,
Increased muscle lipid content,
Increased variability in muscle fiber diameter,
Intellectual disability, mild,
Intermittent episodes of respiratory insufficiency due to muscle weakness,
Internally nucleated skeletal muscle fibers,
Left ventricular hypertrophy,
Limited hip movement,
Limited neck flexion,
Lipoatrophy,
Long face,
Mandibular prognathia,
Microretrognathia,
Mildly elevated creatine kinase,
Mitochondrial depletion,
Mitral valve prolapse,
Motor delay,
Multiple joint contractures,
Muscle fiber atrophy,
Muscle fiber splitting,
Muscular dystrophy,
Myofibrillar myopathy,
Myopathy,
Narrow mouth,
Neck flexor weakness,
Necrotizing myopathy,
Nocturnal hypoventilation,
Ophthalmoparesis,
Ophthalmoplegia,
Orthopnea,
Palmoplantar keratoderma,
Pelvic girdle muscle weakness,
Peroneal muscle atrophy,
Pes cavus,
Pes planus,
Poor head control,
Premature atrial contractions,
Progressive muscle weakness,
Protruding ear,
Proximal muscle weakness,
Proximal muscle weakness in lower limbs,
Ptosis,
Quadriceps muscle weakness,
Reduced left ventricular ejection fraction,
Reduced vital capacity,
Respiratory insufficiency,
Respiratory insufficiency due to muscle weakness,
Retrognathia,
Right ventricular failure,
Right ventricular hypertrophy,
Rimmed vacuoles,
Scapular winging,
Scoliosis,
Sensorineural hearing impairment,
Short stature,
Shoulder girdle muscle weakness,
Skeletal muscle atrophy,
Spinal rigidity,
Steppage gait,
Talipes equinovarus,
Tibialis muscle weakness,
Type 1 muscle fiber predominance,
Ventricular tachycardia,
Waddling gait,
Weakness of facial musculature,
obsolete Congenital muscular dystrophy,
obsolete Restrictive deficit on pulmonary function testing
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