Apr 13, 2016 · X-linked myotubular myopathy (XLMTM) is a rare genetic neuromuscular disorder that is characterized by muscle weakness that is most typically severe but can range from mild to profound. Symptoms are often present at birth, though …

X-linked myotubular myopathy (XLMTM or MTM) is caused by a genetic mutation on the X chromosome, a rare disease that causes muscle weakness. It occurs almost exclusively in males, affecting about 1 in 50,000 newborn boys worldwide.

X-linked myotubular myopathy is a condition that primarily affects muscles used for movement (skeletal muscles) and occurs almost exclusively in males. Explore symptoms, inheritance, genetics of this condition.

X-linked myotubular myopathy (MTM) is a form of centronuclear myopathy (CNM) associated with mutations in the myotubularin 1 gene. It is found almost always in male infants. It is one of the severest congenital muscle diseases and is characterized by marked muscle weakness, hypotonia and feeding and breathing difficulties. [citation needed]

Feb 25, 2002 · X-linked myotubular myopathy (X-MTM), also known as myotubular myopathy (MTM), is characterized by muscle weakness that ranges from severe to mild. Approximately 80% of affected males present with severe (classic) X-MTM characterized by polyhydramnios, decreased fetal movement, and neonatal weakness, hypotonia, and respiratory failure.

XLCNM, specifically, occurs almost exclusively in males and is characterized by progressive muscle weakness (myopathy) and decreased muscle tone (hypotonia) that can range from mild to severe.

Myotubular myopathy is the most common and severe form of centronuclear myopathy, a type of inherited myopathy that causes problems with the tone and contraction of skeletal muscles. What are the symptoms of myotubular myopathy?

The term myotubular myopathy is commonly used for the x-linked form, whilst the term centronuclear myopathy is mainly reserved for the other forms. The commonest form is x-linked myotubular myopathy, affecting mainly boys, and is also the most severe.

Jul 13, 2021 · X-linked myotubular myopathy (XLMTM) is a severe congenital muscle disease caused by mutation in the MTM1 gene. MTM1 encodes myotubularin (MTM1), an endosomal phosphatase that acts to dephosphorylate key second messenger lipids PI3P and PI3,5P2.

X-linked myotubular myopathy is an inherited muscle disorder in newborn males causing severe weakness, respiratory problems, and possible female symptoms.