Identical twins are discovered who have the exact same genetic mutation, but very different symptoms.
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FSHD Region Gene 1 (FRG1) is discovered beside the D4Z4
Sequencing of the region associated with FSHD shows that it does contain a gene, but that the D4Z4 region does not.
The region associated with FSHD is found to have multiple repeat units (D4Z4) with FSHD being associated with fewer than 11 D4Z4 units.
FSHD is linked to recombination event that shortens a region in the 4q35 area
FSHD is linked to alterations on the long arm of chromosome 4 near the tip (4q35)
It was not until 1952 that a formal definition of the clinical features of FSHD was developed. This was based on a large family (1249 individuals!) from Utah who were affected by FSHD. The study was the first to describe the inheritance and the term FSHD was coined. [...]
The same physicians publish a paper on FSHD which describes the familial pattern of the condition.
FSHD first described by French physicians Louis Landouzy and Joseph Dejerine.
A family perspective - A cure for FSHD would mean Hannah and I can run on a beach together. She could dance and twirl till her heart is content. I hope that one day, she can. Many people in the FSHD community may remember the story of [...]