Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome
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Zentrum für neuromuskuläre Erkrankungen im Kindesalter am Universitätsklinikum Freiburg
Zentrum für neuromuskuläre Erkrankungen im Kindesalter am Universitätsklinikum Freiburg
Universitätsklinikum Freiburg Freiburg Zentrum für Seltene Erkrankungen (FZSE)
Breisacher Str. 62
79106 Freiburg
- Microcephaly-complex motor and sensory axonal neuropathy syndrome
- Spinocerebellar ataxia with axonal neuropathy type 1
- Emery-Dreifuss muscular dystrophy
- Becker muscular dystrophy
- Limb-girdle muscular dystrophy
- Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome
- Distal myopathy
- Motor neuron disease
- Amyotrophic lateral sclerosis
- Autosomal dominant slowed nerve conduction velocity
- Muscular dystrophy
- Bulbospinal muscular atrophy
- Proximal spinal muscular atrophy
- Distal hereditary motor neuropathy type 1
- Duchenne muscular dystrophy