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Polyneuropathie 2 (LPN2) - Leonberger evg-analysen Microphthalmia is an autosomal recessive

SKU: 48981561441
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Description

Microphthalmia is an autosomal recessive disorder characterised by ocular and non-ocular manifestations

Mutations in this gene can lead to impaired hunger regulation and obesity

Glykogenspeicherkrankheit Ia (GSD Ia) ist eine autosomal rezessive Störung bei Hunden

but episodes are occasionally fatal

Over 55 new tests: Early detection of genetic risks – for optimal prevention

Polyneuropathie 2 (LPN2) - Leonberger evg-analysen Microphthalmia is an autosomal recessivePolyneuropathy (PN) is a progressive neurological disease with typically signs like hypotonia, muscle atrophy secondary to denervation and abnormal motor signs. Early signs are laryngeal paralysis, inspiratory stridor and dyspnoea and are considered as strong indicator of neuropathy that may later progress. Clinical signs in Leonberger vary greatly and have different age of onset from <1 year to 10 years of age. A mutation in GJA9 gene was identified

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