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A patient with a new PLEC gene mutation showed symptoms of both muscular dystrophy and myasthenia gravis, which improved with steroid treatment.

Looser dietary restrictions can improve growth and reduce illness in methylmalonic acidemia patients.

High glycine–tyrosine keratin-associated proteins help make hair strong and maintain its shape.

A patient with a larger than usual genetic mutation had a broader range of symptoms for a muscle disease.

Giant axonal neuropathy changes the structure of keratin in human hair, making it stiffer and stronger.

Giant axonal neuropathy changes the structure of keratin in human hair.

A patient with a PLEC mutation has epidermolysis bullosa, muscular dystrophy, and myasthenia gravis, which improved with steroid treatment.

Three genes in Arabidopsis are important for plant growth and development by affecting sugar attachment to proteins.

Scientists found a new protein, AMY117, common in Alzheimer's patients, which could be important for treatment and diagnosis.

A rare ITGB6 gene variant causes intellectual disability, hair loss, and dental issues.

A specific chemical change in the S100A3 protein leads to the formation of a four-part structure important for hair formation.

Changes in genes FGA, VWF, and ACTG1 may contribute to pemphigus vulgaris.

Some children with methylmalonic and propionic acidaemias have skin problems related to their condition and diet.

The study concluded that three enzymes are important for plant development by affecting sugar composition and calcium binding in plants.

The Swedish neonatal screening program effectively detects PKU, galactosaemia, and biotinidase deficiency with low false positives.

The 3D structure of a key hair protein was modeled, revealing specific helical structures and stabilization features.

A complex of 5-aminolevulinic acid and glycyl-histidyl-lysine peptide may help increase hair count in male pattern hair loss without side effects.

TGM3 is important for skin and hair structure and may help diagnose cancer.

The TGM3 gene's promoter region is key for skin and hair cell function and may aid gene therapy.

A compound named ZCZ90 can increase muscle spindle firing, potentially helping treat muscle spasms and hypertension.

IVIG therapy significantly improved symptoms in a patient with APS-2 and SPS.

The LMNA mutation affects skin structure even in asymptomatic carriers.

Sinapic acid and glabridin together help hair growth in androgenetic alopecia.

Enzyme replacement therapy improved multiple symptoms of homocystinuria in mice.

Transglutaminase activity is important for skin and is found in both mammals and birds.

N-acetyl-GED may help prevent and partially reverse a process that leads to scarring hair loss.

The new cream with N-acetyl glucosamine didn't change skin color after 8 weeks.