Qazi–Markouizos syndrome | |
---|---|
Other names | Dysharmonic skeletal maturation-muscular fiber disproportion syndrome [1] |
Qazi–Markouizos syndrome is a rare hereditary condition characterized by non-progressive, congenital hypotonia, severe intellectual disability, an increased proportion of type 2 muscle fibers, which additionally exhibited increased size, as well as dysharmonic skeletal maturation. [2] [3] To date, the molecular mechanism of Qazi–Markouizos syndrome, which is also known as Puerto Rican infant hypotonia syndrome, [4] remains unknown.
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cite web}}
: CS1 maint: numeric names: authors list (
link)
Qazi–Markouizos syndrome | |
---|---|
Other names | Dysharmonic skeletal maturation-muscular fiber disproportion syndrome [1] |
Qazi–Markouizos syndrome is a rare hereditary condition characterized by non-progressive, congenital hypotonia, severe intellectual disability, an increased proportion of type 2 muscle fibers, which additionally exhibited increased size, as well as dysharmonic skeletal maturation. [2] [3] To date, the molecular mechanism of Qazi–Markouizos syndrome, which is also known as Puerto Rican infant hypotonia syndrome, [4] remains unknown.
{{
cite web}}
: CS1 maint: numeric names: authors list (
link)