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