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Muscular phosphorylase kinase deficiency

Muscular phosphorylase kinase deficiency: Introduction

Muscular phosphorylase kinase deficiency: A very rare genetic defect which affects muscles and causes rapid fatigue on exertion and muscle cramping and weakness. More detailed information about the symptoms, causes, and treatments of Muscular phosphorylase kinase deficiency is available below.

Symptoms of Muscular phosphorylase kinase deficiency

Wrongly Diagnosed with Muscular phosphorylase kinase deficiency?

Causes of Muscular phosphorylase kinase deficiency

  • The condition is caused by a defect in the PHKA1 gene on chromosome Xq13 and is inherited in a X-linked recessive manner
  • more causes...»

More information about causes of Muscular phosphorylase kinase deficiency:

Misdiagnosis and Muscular phosphorylase kinase deficiency

Vitamin B12 deficiency under-diagnosed: The condition of Vitamin B12 deficiency is a possible misdiagnosis of various conditions, such as multiple sclerosis (see symptoms of multiple sclerosis). See symptoms of Vitamin B12...read more »

Muscular phosphorylase kinase deficiency: Research Doctors & Specialists

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Muscular phosphorylase kinase deficiency: Animations

Statistics for Muscular phosphorylase kinase deficiency

Muscular phosphorylase kinase deficiency: Broader Related Topics

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Definitions of Muscular phosphorylase kinase deficiency:

Ophanet, a consortium of European partners, currently defines a condition rare when it affects 1 person per 2,000. They list Muscular phosphorylase kinase deficiency as a "rare disease".
Source - Orphanet

Related Muscular phosphorylase kinase deficiency Info

More information about Muscular phosphorylase kinase deficiency

  1. Muscular phosphorylase kinase deficiency: Introduction
  2. Symptoms
  3. Causes
  4. Treatments
  5. Misdiagnosis
 

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